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ISHIMORI Shingo
Graduate School of Medicine / Faculty of Medical Sciences
Associate Professor

Researcher basic information

■ Research Areas
  • Life sciences / Fetal medicine/Pediatrics
■ Committee History
  • Aug. 2014 - Present, 日本小児腎臓病学会, 代議員 （教育委員会）
  • Jun. 2022, 小児SLEガイドライン, Systematic Review委員
  • May 2022, 小児の臓器移植および免疫不全状態における予防接種ガイドライン, Systematic Review委員

Research activity information

■ Award
  • Oct. 2023 第32回日本小児リウマチ学会, Best Abstract Award

  • Oct. 2021 2021年日本小児感染症学会 研究プロジェクト助成金（第16回研究奨励賞）

  • Apr. 2021 18th Japan-Korea-China Pediatric Nephrology Seminar: Excellent Presentation Award

  • Jan. 2021 第29回日本小児泌尿器科学会 若手奨励賞

  • Oct. 2014 第36回日本小児腎不全学会 優秀演題賞（慢性腎障害部門）

■ Paper
  • China Nagano, Naoya Morisada, Yuta Inoki, Yu Tanaka, Yuta Ichikawa, Chika Ueda, Hideaki Kitakado, Yuya Aoto, Nana Sakakibara, Tomoko Horinouchi, Tomohiko Yamamura, Shingo Ishimori, Kandai Nozu
    BACKGROUND: Autosomal-dominant tubulointerstitial kidney disease caused by MUC1 (ADTKD-MUC1) is a rare disorder characterized by progressive kidney dysfunction. Pathogenic variants in MUC1 are difficult to detect owing to the variable number tandem repeat region. To address this issue, VNtyper-Kestrel, a bioinformatics pipeline for short-read sequencing data, was recently developed. In this study, the performance of VNtyper-Kestrel for detecting MUC1 variants in clinical settings was evaluated. METHODS: We used VNtyper-Kestrel to retrospectively analyze short-read sequencing data for 209 individuals with suspected ADTKD who were previously evaluated through long-read sequencing. Data from a panel including ~ 180 genes and an ADTKD-specific panel were used. In addition, the pipeline was applied to 976 patients with suspected hereditary kidney diseases other than ADTKD and positive cases were validated using long-read sequencing. Accuracy was assessed by comparisons with the results of long-read sequencing. RESULTS: Using VNtyper-Kestrel, we identified MUC1 variants in 16 of 19 confirmed cases of ADTKD-MUC1. Three initially negative cases were reanalyzed using the ADTKD-specific panel, yielding positive detection results with high confidence. We obtained two low-confidence positive results from 190 cases of suspected ADTKD and 10 low-confidence positive results among 976 non-ADTKD cases; however, all were classified as false positives upon long-read sequencing validation. CONCLUSIONS: VNtyper-Kestrel demonstrated high sensitivity in identifying MUC1 variants when sequencing coverage was adequate, supporting its potential as a rapid and cost-effective screening tool. However, confirmatory long-read sequencing is needed in uncertain cases. Optimizing coverage and refining patient selection criteria could improve the clinical utility of this approach.
    Apr. 2025, Clinical and experimental nephrology, English, Domestic magazine
    Scientific journal
    Link to Kobe Univ. Repository (Kernel)

  • Yu Tanaka, Tomoko Horinouchi, Yuta Inoki, Yuta Ichikawa, Chika Ueda, Hideaki Kitakado, Atsushi Kondo, Nana Sakakibara, Shingo Ishimori, Tomohiko Yamamura, China Nagano, Kandai Nozu
    BACKGROUND: Isotonic fluids are becoming the standard for hydration and maintenance fluid therapy, but there is no consensus on the optional choice among the different types of isotonic solution. METHODS: This study is a single-center, non-randomized controlled trial at Kobe University Hospital, Japan, between April 2021 and March 2023. The study included pediatric patients aged 1-19 years who underwent kidney biopsies. From April 2021 to March 2022, 0.9% sodium chloride (saline) was administered, and from April 2022 to March 2023, balanced crystalloids were used. The primary outcome was the occurrence of hyponatremia (< 137 mEq/L) after a kidney biopsy. Secondary outcomes included other electrolyte balances, blood gas parameters, creatinine-based estimated glomerular filtration rate (Cr-eGFR), and arginine vasopressin concentrations (UMIN Clinical Trial Registry: UMIN 000044330). RESULTS: Of 61 patients enrolled, 2 were excluded, leaving 34 in the saline group and 25 in the balanced crystalloid group. No hyponatremia occurred, and serum sodium concentrations were similar between both groups (138.7 vs. 138.9 mEq/L, P = 0.08). The saline group showed a greater increase in serum chloride (+ 1.7 vs. + 0.2, P < 0.01) and a greater decrease in HCO3- concentrations (- 0.6 vs. + 0.9, P < 0.01). There were minimal changes in pH (- 0.01 vs. - 0.01, P = 0.99) and Cr-eGFR (- 1.5 vs. + 1.1 mL/min/1.73 m2, P = 0.96) in both groups. CONCLUSIONS: During pediatric kidney biopsy, both saline and balanced crystalloids were effective in preventing hyponatremia. Although saline infusion results in higher serum chloride concentrations and lower blood HCO3- concentrations than balanced crystalloids infusion, the clinical significance was minimal.
    Apr. 2025, Pediatric nephrology (Berlin, Germany), 40(4) (4), 1033 - 1040, English, International magazine
    Scientific journal
    Link to Kobe Univ. Repository (Kernel)

  • Yuta Inoki, Tomoko Horinouchi, Shuhei Aoyama, Yuka Kimura, Yuta Ichikawa, Yu Tanaka, Chika Ueda, Hideaki Kitakado, Atsushi Kondo, Nana Sakakibara, Koichi Kamei, Riku Hamada, Naoya Fujita, Yoshimitsu Gotoh, Yoshitsugu Kaku, Kei Nishiyama, Takayuki Okamoto, Yukiko Toya, Tomohiko Yamamura, Shingo Ishimori, China Nagano, Kandai Nozu
    BACKGROUND: More than half of patients with congenital nephrotic syndrome (CNS) or infantile nephrotic syndrome (infantile NS) have a monogenic aetiology. This study aimed to clarify differences in the clinical course, genetic background, and genotype-phenotype correlation between CNS and infantile NS. METHODS: We enrolled patients who were diagnosed with CNS or infantile NS and referred to our hospital for genetic analysis and investigated the clinical characteristics and genetic background of patients with identified causative genes. RESULTS: Among 74 patients enrolled, disease-causing genetic variants were detected in 50 patients. The median age for developing kidney failure in the genetic CNS (n = 33) and genetic infantile NS (n = 17) groups with monogenic variants was 13.2 and 19.0 months, respectively (P = 0.13). The age at developing kidney failure was significantly earlier in CNS patients with genes other than NPHS1 than in CNS patients with NPHS1 variants (1.0 vs. 31.0 months; P < 0.001). In patients with pathogenic variants other than NPHS1, there was a significant difference in the age at developing kidney failure between CNS and infantile NS patients (1.0 vs. 15.0 months; P < 0.001). Of patients with NPHS1 variants, no infants with NS had any truncating variants or developed kidney failure during follow-up. CONCLUSIONS: The onset of CNS or infantile NS affects the kidney prognosis in patients with genetic nephrotic syndrome. Among patients with pathogenic variants in the same gene, patients with infantile NS may have a milder genotype and better prognosis than those with CNS.
    Mar. 2025, Pediatric nephrology (Berlin, Germany), English, International magazine
    Scientific journal
    Link to Kobe Univ. Repository (Kernel)

  • Yu Tanaka, China Nagano, Nana Sakakibara, Eri Okada, Shuhei Aoyama, Yuka Kimura, Yuta Inoki, Yuta Ichikawa, Chika Ueda, Hideaki Kitakado, Tomoko Horinouchi, Tomohiko Yamamura, Shingo Ishimori, Kazumoto Iijima, Kandai Nozu, Naoya Morisada
    BACKGROUND: Autosomal dominant tubulointerstitial kidney disease (ADTKD) is characterized by tubular atrophy, interstitial fibrosis, and progressive kidney dysfunction. Its causative genes include UMOD, MUC1, REN, HNF1B, and SEC61A1. ADTKD contributes to unexplained chronic kidney disease (CKD), and many cases remain genetically undiagnosed. This study aimed to elucidate the clinical features of patients genetically diagnosed with ADTKD in Japan. METHODS: We included individuals with suspected congenital anomalies of the kidney and urinary tract, nephronophthisis, polycystic kidney disease, or ADTKD. Genetic analyses using direct sequencing, short-read next-generation sequencing (SRS), and/or long-read next-generation sequencing (LRS) were performed on 1097 families. Patients with ADTKD-HNF1B were excluded due to prior reporting. RESULTS: Variants in UMOD, MUC1, REN, and SEC61A1 were identified in 52 patients from 40 families (18, 16, 5, and 1 family, respectively). The median age at diagnosis was 38.5 years, and the urinary protein-to-creatinine ratio was 0.05 g/gCr. End-stage kidney disease was present at diagnosis in 37% of patients. Genetic testing was performed in 58% due to suspected ADTKD based on pathology or clinical course and in 38% due to unexplained CKD. Kidney biopsies were performed in 55%, with ADTKD confirmed pathologically in 41%. SRS and LRS were used in 55% and 30% of all families, respectively; for ADTKD-MUC1, 75% of families were analyzed using LRS. CONCLUSIONS: Clinical and pathological diagnosis of ADTKD remains challenging, emphasizing the importance of comprehensive genetic testing. Enhanced access to advanced genetic testing such as LRS is essential to improve diagnostic precision and management.
    Feb. 2025, Clinical and experimental nephrology, English, Domestic magazine
    Scientific journal
    Link to Kobe Univ. Repository (Kernel)

  • Hideaki Kitakado, Tomoko Horinouchi, Shuhei Aoyama, Yuka Kimura, Yuta Inoki, Yu Tanaka, Chika Ueda, Yuya Aoto, Nana Sakakibara, China Nagano, Tomohiko Yamamura, Shingo Ishimori, Rini Rossanti, Masafumi Matsuo, Kandai Nozu
    INTRODUCTION: Alport syndrome (AS) is an inherited kidney disease caused by variants in the COL4A3, COL4A4, or COL4A5 genes, resulting in type IV collagen abnormalities. Although autosomal dominant variants in COL4A3 and COL4A4 are increasingly being diagnosed, X-linked AS (XLAS) caused by COL4A5 variants predominates. Single nucleotide substitutions in introns positioned at first and second from the last nucleotide (called a consensus sequence) of exons always cause aberrant splicing. However, whether intronic variants at the third to fifth positions from the last nucleotide of exons can cause aberrant splicing is unclear. METHODS: We identified 11 intronic variants positioned at the third, fourth, and fifth nucleotides from the exon 3' end in COL4A5 from our AS cohort (January 2006-July 2022). We conducted in vitro splicing assays using minigenes and in silico splicing analysis using commercial splicing prediction software and evaluated mRNA sequences obtained from patients' samples when available. RESULTS: All 11 patients showed aberrant splicing patterns in the minigene splicing assays. In vivo analysis of 6 patients corroborated these findings. The commercial splicing prediction software accurately predicted splicing changes in 10 variants. CONCLUSIONS: This study shows that 11 intronic variants at the third to fifth positions in COL4A5 introns cause aberrant splicing. This finding highlights the importance of evaluating such variants for the diagnosis and prognosis of XLAS. Further investigation is warranted to confirm the pathogenicity of these variants and their effect on the prognosis of the kidney in XLAS.
    Feb. 2025, Kidney international reports, 10(2) (2), 516 - 521, English, International magazine
    Scientific journal
    Link to Kobe Univ. Repository (Kernel)

  • Yuta Inoki, Tomoko Horinouchi, Tomohiko Yamamura, Shingo Ishimori, Yuta Ichikawa, Yu Tanaka, Chika Ueda, Hideaki Kitakado, Atsushi Kondo, Nana Sakakibara, China Nagano, Kandai Nozu
    KEY POINTS: Patients with both COL4A3 and COL4A4 variants exhibited poor renal prognosis compared with those with autosomal dominant Alport syndrome. The proportion of patients with digenic Alport syndrome was 1.7% among all patients with Alport syndrome. BACKGROUND: Digenic Alport syndrome could be associated with poor renal prognosis. However, the characteristics of patients with digenic Alport syndrome remain ambiguous. METHODS: We retrospectively investigated the clinical symptoms, pathological findings, genetic variants, and proportions of patients with digenic Alport syndrome. The ages at detection of proteinuria and development of ESKD were compared between patients with digenic Alport syndrome with disease-causing variants in COL4A3 and COL4A4 and those with autosomal dominant Alport syndrome (ADAS) previously analyzed by our group. RESULTS: Eighteen patients from nine families with digenic variants in COL4A3 and COL4A4 and four male and five female patients with digenic variants in COL4A5 and COL4A3 or COL4A4 were enrolled in this study. Next-generation sequencing revealed that the proportion of patients with digenic Alport syndrome was 1.7% among all patients with Alport syndrome. In patients with digenic variants in COL4A3 and COL4A4, the median ages at detection of proteinuria and ESKD were 10.0 and 57.0 years, respectively. Compared with the patients with ADAS, the age at detection of proteinuria tended to be earlier (10.0 versus 20.0 years; P = 0.073) and that at development of ESKD was significantly earlier (57.0 versus 72.0 years; P = 0.045) in patients with digenic Alport syndrome. CONCLUSIONS: Overall, patients with digenic Alport syndrome harboring COL4A3 and COL4A4 variants exhibited poor renal compared with the patients with ADAS. Therefore, timely identification of the two disease-causing variants is critical for the renal prognostic assessment and early treatment of patients with digenic Alport syndrome.
    Oct. 2024, Kidney360, 5(10) (10), 1510 - 1517, English, International magazine
    Scientific journal
    Link to Kobe Univ. Repository (Kernel)

  • Ryota Suzuki, Nana Sakakibara, Sae Murakami, Yuta Ichikawa, Hideaki Kitakado, Chika Ueda, Yu Tanaka, Eri Okada, Atsushi Kondo, Yuya Aoto, Shinya Ishiko, Shingo Ishimori, China Nagano, Tomohiko Yamamura, Tomoko Horinouchi, Takayuki Okamoto, Kandai Nozu
    BACKGROUND AND HYPOTHESIS: Male patients with X-linked Alport syndrome (XLAS) generally develop end-stage kidney disease in early or middle adulthood and show distinct genotype-phenotype correlations. Female patients, however, show various phenotypes ranging from asymptomatic to severe with no genotype-phenotype correlations. However, the factors affecting the severity of XLAS in female patients are unclear. Since X-chromosome inactivation (XCI) affects the severity of certain female X-linked diseases, we investigated whether genotype and XCI were associated with XLAS severity in female patients in a large Japanese cohort. METHODS: Among 139 female patients with genetically diagnosed XLAS at our institution, we conducted XCI analysis on peripheral blood leukocytes using the human androgen receptor assay method and analyzed two cohorts. In 74 adult female patients, we evaluated the correlation between kidney function (creatinine-estimated glomerular filtration rate [Cr-eGFR] optimized for Japanese individuals) and genotype/XCI using multivariable linear regression analysis, and in 65 pediatric female patients, we evaluated the correlation between kidney function (Cr-eGFR optimized for Japanese individuals) and genotype/XCI using multivariable linear regression analysis. We also investigated the correlation between the development of proteinuria (urine protein-to-creatinine ratio above normal for the patient's age) and genotype/XCI using multivariable Cox proportional hazard analysis. RESULTS: In adult female patients, XCI pattern was significantly associated with Cr-eGFR (regression coefficient estimate = -0.53, P = 0.004), whereas genotype was not (P = 0.892). In pediatric female patients, both genotype and XCI pattern were significant independent risk factors for the development of proteinuria (hazard ratio [HR], 3.702; 95% confidence interval [CI], 1.681-8.150; P = 0.001 and HR, 1.043; 95% CI, 1.061-1.070; P = 0.001, respectively), whereas both genotype and XCI pattern were not associated with Cr-eGFR (P = 0.20, P = 0.67, respectively). CONCLUSION: Genotype and XCI are factors associated with the severity in females with XLAS.
    Aug. 2024, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, English, International magazine
    Scientific journal

  • 早産や低出生体重児の潜在的レニン・アンギオテンシン・アルドステロン(RAAS)系亢進の存在に関する検討
    石森 真吾, 北角 英晶, 近藤 淳, 藤村 順也, 堀之内 智子, 野津 寛大
    (一社)日本腎臓学会, Jun. 2024, 日本腎臓学会誌, 66(4) (4), 598 - 598, Japanese

  • 石森 真吾, 大西 聡, 服部 有香, 服部 健吾, 今出 礼, 窪田 拓生, 起塚 庸
    日本小児泌尿器科学会, Jun. 2024, 日本小児泌尿器科学会雑誌, 33(1) (1), 57 - 60, Japanese

  • Chika Ueda, Tomoko Horinouchi, Yuta Inoki, Yuta Ichikawa, Yu Tanaka, Hideaki Kitakado, Atsushi Kondo, Nana Sakakibara, China Nagano, Tomohiko Yamamura, Junya Fujimura, Naohiro Kamiyoshi, Shingo Ishimori, Takeshi Ninchoji, Hiroshi Kaito, Yuko Shima, Kazumoto Iijima, Kandai Nozu, Norishige Yoshikawa
    BACKGROUND: Membranoproliferative glomerulonephritis (MPGN) can be divided into immune-complex MPGN (IC-MPGN) and C3 glomerulopathy (C3G), which includes dense deposit disease (DDD) and C3 glomerulonephritis (C3GN). These conditions result from abnormalities in different complement pathways and may lead to different prognoses. However, there are limited studies describing the respective clinical courses. METHODS: In this study, Japanese pediatric patients diagnosed with MPGN based on kidney biopsies conducted between February 2002 and December 2022 were reclassified as having IC-MPGN or C3G (DDD or C3GN). We retrospectively analyzed the clinical characteristics and outcomes of these patients. RESULTS: Out of 25 patients with MPGN, three (12.0%) were diagnosed with DDD, 20 (80.0%) with C3GN, and two (8.0%) with IC-MPGN. There were 13 (65.0%) patients and one (33.3%) patient in remission after treatment for C3GN and DDD, respectively, and no patients with IC-MPGN achieved remission. The median follow-up period was 5.3 (2.5-8.9) years, and none of the patients in either group progressed to an estimated glomerular filtration rate < 15 ml/min/1.73 m2. Patients with C3GN presenting mild to moderate proteinuria (n = 8) received a renin-angiotensin system inhibitor (RAS-I) alone, and these patients exhibited a significant decrease in the urinary protein creatinine ratio and a notable increase in serum C3 levels at the last follow-up. CONCLUSIONS: Most patients with MPGN were diagnosed with C3GN. The remission rate for C3GN was high, and no patients developed kidney failure during the approximately 5-year follow-up. Additionally, patients with C3GN with mild to moderate proteinuria had good outcomes with RAS-I alone, but continued vigilance is necessary to determine long-term prognosis.
    Apr. 2024, Pediatric nephrology (Berlin, Germany), English, International magazine
    Scientific journal
    Link to Kobe Univ. Repository (Kernel)

  • 軽微な受傷機転にもかかわらず急性硬膜下血腫に至った小児8例の検討
    篠本 匡志, 大西 聡, 中村 夏樹, 和田 雄樹, 山本 和宏, 石森 真吾, 内山 敬達, 原田 敦子, 起塚 庸
    (一社)日本小児救急医学会, Feb. 2024, 日本小児救急医学会雑誌, 23(1) (1), 7 - 11, Japanese

  • 和田 雄樹, 山中 巧, 豊田 佐織, 川本 早希, 福屋 章悟, 前野 和重, 服部 有香, 大西 聡, 石森 真吾, 起塚 庸, 原田 敦子
    (一社)日本小児神経外科学会, Nov. 2023, 小児の脳神経, 48(4) (4), 368 - 374, Japanese

  • 眼虚血症候群を合併した,維持腹膜透析の3歳男児例
    石森 真吾, 山本 和宏, 篠本 匡志, 大西 聡, 服部 有香, 堀之内 智子, 上田 香織, 中西 裕子, 起塚 庸
    (一社)日本腎臓学会, Sep. 2023, 日本腎臓学会誌, 65(6-W) (6-W), 794 - 794, Japanese

  • 当院における小児てんかん患者へのペランパネルの使用経験について
    服部 有香, 起塚 庸, 濱本 麻希, 大西 聡, 今出 礼, 石森 真吾
    (一社)日本てんかん学会, Sep. 2023, てんかん研究, 41(2) (2), 474 - 474, Japanese

  • Ryota Suzuki, Nana Sakakibara, Yuta Ichikawa, Hideaki Kitakado, Chika Ueda, Yu Tanaka, Eri Okada, Atsushi Kondo, Shinya Ishiko, Shingo Ishimori, China Nagano, Tomohiko Yamamura, Tomoko Horinouchi, Takayuki Okamoto, Kandai Nozu
    Elsevier {BV}, Jul. 2023, Kidney International Reports, English
    [Refereed]
    Scientific journal

  • Sadayuki Nagai, Tomoko Horinouchi, Takeshi Ninchoji, Yuta Ichikawa, Yu Tanaka, Hideaki Kitakado, Chika Ueda, Atsushi Kondo, Yuya Aoto, Nana Sakakibara, Hiroshi Kaito, Ryojiro Tanaka, Yuko Shima, Junya Fujimura, Naohiro Kamiyoshi, Shingo Ishimori, Koichi Nakanishi, Norishige Yoshikawa, Kazumoto Iijima, Kandai Nozu
    BACKGROUND: Patients with severe IgA vasculitis with nephritis (IgAVN) typically receive aggressive therapy as an initial approach. We have consistently performed combination therapy including corticosteroids and immunosuppressants as initial therapy for severe IgAVN over a 20-year-plus period, with only minor changes to the treatment protocol. This study seeks to reveal the efficacy of combination therapy for severe IgAVN. METHODS: We retrospectively studied 50 Japanese children diagnosed between 1996 and 2019 with clinicopathologically severe IgAVN who were defined as ISKDC classification grade IIIb-V and/or serum albumin < 2.5 g/dL. RESULTS: The median age at the onset of IgAVN was 8.0 years (IQR: 6.0-10.0). At biopsy, 44% of patients had nephrotic syndrome and 14% had kidney dysfunction. All patients were treated with combination therapy after biopsy. Abnormal proteinuria resolved after initial therapy in all 50 patients. However, eight patients (16%) had recurrence of proteinuria. Abnormal proteinuria was again resolved in three of these patients with additional treatment. At the last follow-up (median 59.5 months; IQR, 26.2-84.2), the median urine protein-to-creatine ratio was 0.08 g/gCr (IQR, 0.05-0.15), and only one patient had kidney dysfunction. CONCLUSIONS: Combination therapy provided good kidney outcomes for Japanese children with severe IgAVN. Even including recurrent cases, the degree of proteinuria was slight, and kidney function was good at the last follow-up. A higher resolution version of the Graphical abstract is available as Supplementary information.
    Jun. 2023, Pediatric nephrology (Berlin, Germany), English, International magazine
    Scientific journal

  • Eri Okada, Tomoko Horinouchi, Tomohiko Yamamura, Yuya Aoto, Ryota Suzuki, Yuta Ichikawa, Yu Tanaka, Chika Masuda, Hideaki Kitakado, Atsushi Kondo, Nana Sakakibara, Shinya Ishiko, China Nagano, Shingo Ishimori, Joichi Usui, Kunihiro Yamagata, Masafumi Matsuo, Kandai Nozu
    BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder caused by insufficient α-galactosidase A (GLA) activity resulting from variants in the GLA gene, which leads to glycosphingolipid accumulation and life-threatening, multi-organ complications. Approximately 50 variants have been reported that cause splicing abnormalities in GLA. Most were found within canonical splice sites, which are highly conserved GT and AG splice acceptor and donor dinucleotides, whereas one-third were located outside canonical splice sites, making it difficult to interpret their pathogenicity. In this study, we aimed to investigate the genetic pathogenicity of variants located in non-canonical splice sites within the GLA gene. METHODS: 13 variants, including four deep intronic variants, were selected from the Human Gene Variant Database Professional. We performed an in vitro splicing assay to identify splicing abnormalities in the variants. RESULTS: All candidate non-canonical splice site variants in GLA caused aberrant splicing. Additionally, all but one variant was protein-truncating. The four deep intronic variants generated abnormal transcripts, including a cryptic exon, as well as normal transcripts, with the proportion of each differing in a cell-specific manner. CONCLUSIONS: Validation of splicing effects using an in vitro splicing assay is useful for confirming pathogenicity and determining associations with clinical phenotypes.
    May 2023, Clinical and experimental nephrology, English, Domestic magazine
    Scientific journal

  • Chiara De Mutiis, Scott E Wenderfer, Biswanath Basu, Arvind Bagga, Alvaro Orjuela, Tanmoy Sar, Amita Aggarwal, Avinash Jain, Hui-Kim Yap, Sharon Teo, Shuichi Ito, Ai Ohnishi, Naomi Iwata, Ozgur Kasapcopur, Mehmet Yildiz, Audrey Laurent, Antonio Mastrangelo, Masao Ogura, Yuko Shima, Pornpimol Rianthavorn, Clovis A Silva, Vitor Trindade, Alessandra Gianviti, Miyazono Akinori, Riku Hamada, Junya Fujimura, Shogo Minamikawa, Naohiro Kamiyoshi, Hiroshi Kaito, Shingo Ishimori, Francesco Iannuzzella, Kjell Tullus
    BACKGROUND: Children with lupus have a higher chance of nephritis and worse kidney outcome than adult patients. METHODS: We retrospectively analyzed clinical presentation, treatment and 24-month kidney outcome in a cohort of 382 patients (≤ 18 years old) with lupus nephritis (LN) class ≥ III diagnosed and treated in the last 10 years in 23 international centers. RESULTS: The mean age at onset was 11 years 9 months and 72.8% were females. Fifty-seven percent and 34% achieved complete and partial remission at 24-month follow-up, respectively. Patients with LN class III achieved complete remission more often than those with classes IV or V (mixed and pure). Only 89 of 351 patients maintained stable complete kidney remission from the 6th to 24th months of follow-up. eGFR ≥ 90 ml/min/1.73 m2 at diagnosis and biopsy class III were predictive of stable kidney remission. The youngest and the oldest age quartiles (2y-9y, 5m) (14y, 2m-18y,2m) showed lower rates of stable remission (17% and 20.7%, respectively) compared to the two other age groups (29.9% and 33.7%), while there was no difference in gender. No difference in achieving stable remission was found between children who received mycophenolate or cyclophosphamide as induction treatment. CONCLUSION: Our data show that the rate of complete remission in patients with LN is still not high enough. Severe kidney involvement at diagnosis was the most important risk factor for not achieving stable remission while different induction treatments did not impact outcome. Randomized treatment trials involving children and adolescents with LN are needed to improve outcome for these children. A higher resolution version of the Graphical abstract is available as Supplementary information.
    May 2023, Pediatric nephrology (Berlin, Germany), 38(11) (11), 3699 - 3709, English, International magazine
    Scientific journal

  • X染色体連鎖型Alport症候群女性における、X染色体不活化パターン・表現型相関
    鈴木 諒太, 榊原 菜々, 市川 裕太, 北角 英晶, 上田 知佳, 田中 悠, 岡田 絵里, 近藤 淳, 石森 真吾, 堀之内 智子, 岡本 孝之, 野津 寛大
    (一社)日本小児腎臓病学会, May 2023, 日本小児腎臓病学会雑誌, 36(Suppl.) (Suppl.), 96 - 96, Japanese

  • LAMB2関連疾患における臨床的特徴と遺伝型・表現型相関
    鈴木 諒太, 榊原 菜々, 市川 裕太, 北角 英晶, 上田 知佳, 田中 悠, 岡田 絵里, 近藤 淳, 石森 真吾, 堀之内 智子, 岡本 孝之, 野津 寛大
    (一社)日本小児腎臓病学会, May 2023, 日本小児腎臓病学会雑誌, 36(Suppl.) (Suppl.), 96 - 96, Japanese

  • 石森 真吾, 堀之内 智子, 山村 智彦, 藤村 順也, 神吉 直宙, 貝藤 裕史, 田中 百合子, 松倉 裕喜, 島袋 渡, 島 友子, 河口 亜津彩, 荒木 義則, 中西 浩一, 野津 寛大
    (一社)日本小児腎臓病学会, May 2023, 日本小児腎臓病学会雑誌, 36(Suppl.) (Suppl.), 124 - 124, Japanese

  • 上田 知佳, 堀之内 智子, 市川 裕太, 田中 悠, 北角 英晶, 近藤 淳, 榊原 菜々, 藤村 順也, 神吉 直宙, 石森 真吾, 貝藤 裕史, 島 友子, 吉川 徳茂, 野津 寛大
    (一社)日本小児腎臓病学会, May 2023, 日本小児腎臓病学会雑誌, 36(Suppl.) (Suppl.), 126 - 126, Japanese

  • X染色体連鎖型Alport症候群女性における,X染色体不活化・表現型相関
    鈴木 諒太, 榊原 菜々, 市川 裕太, 北角 英晶, 上田 知佳, 田中 悠, 岡田 絵里, 近藤 淳, 石森 真吾, 堀之内 智子, 岡本 孝之, 野津 寛大
    (一社)日本腎臓学会, May 2023, 日本腎臓学会誌, 65(3) (3), 262 - 262, Japanese

  • 小児C3腎炎の後方視的検討
    上田 知佳, 堀之内 智子, 市川 裕太, 田中 悠, 北角 英晶, 近藤 淳, 榊原 菜々, 藤村 順也, 神吉 直宙, 石森 真吾, 貝藤 裕史, 島 友子, 吉川 徳茂, 野津 寛大
    (一社)日本腎臓学会, May 2023, 日本腎臓学会誌, 65(3) (3), 323 - 323, Japanese

  • 小児IgA腎症の肉眼的血尿発作に伴う急性腎障害発症に鉄とマクロファージが関与する 多機関共同研究
    石森 真吾, 堀之内 智子, 藤村 順也, 神吉 直宙, 貝藤 裕史, 田中 百合子, 松倉 裕喜, 島袋 渡, 島 友子, 河口 亜津彩, 荒木 義則, 中西 浩一, 野津 寛大
    (一社)日本腎臓学会, May 2023, 日本腎臓学会誌, 65(3) (3), 335 - 335, Japanese

  • Eri Okada, Naoya Morisada, Tomoko Horinouchi, Hideki Fujii, Takayuki Tsuji, Masayoshi Miura, Hideyuki Katori, Masashi Kitagawa, Kunio Morozumi, Takanobu Toriyama, Yuki Nakamura, Ryuta Nishikomori, Sadayuki Nagai, Atsushi Kondo, Yuya Aoto, Shinya Ishiko, Rini Rossanti, Nana Sakakibara, China Nagano, Tomohiko Yamamura, Shingo Ishimori, Joichi Usui, Kunihiro Yamagata, Kazumoto Iijima, Toshiyuki Imasawa, Kandai Nozu
    [This corrects the article DOI: 10.1016/j.ekir.2021.12.037.].
    May 2023, Kidney international reports, 8(5) (5), 1127 - 1129, English, International magazine

  • AVPR2ヘテロ接合体バリアントを持つ女性における,X染色体不活性化パターンと腎性尿崩症の発症との相関
    鈴木 諒太, 岡田 絵里, 榊原 菜々, 大塚 泰史, 岡 政史, 西川 有希, 亀田 啓, 高橋 由華, 武者 育麻, 石森 真吾, 市川 裕太, 北角 英晶, 田中 悠, 近藤 淳, 堀之内 智子, 岡本 孝之, 野津 寛大
    (公社)日本小児科学会, Feb. 2023, 日本小児科学会雑誌, 127(2) (2), 204 - 204, Japanese

  • 石森 真吾, 永尾 宏之, 山本 和宏, 篠本 匡志, 大西 聡, 服部 有香, 今出 礼, 堀之内 智子, 上田 香織, 中西 裕子, 起塚 庸
    (一社)日本小児腎臓病学会, 2023, 日本小児腎臓病学会雑誌, 36, 50 - 51, Japanese

  • Shingo Ishimori, Tomoko Horinouchi, Junya Fujimura, Tomohiko Yamamura, Natsuki Matsunoshita, Naohiro Kamiyoshi, Mai Sato, Masao Ogura, Koichi Kamei, Kenji Ishikura, Kazumoto Iijima, Kandai Nozu
    BACKGROUND: Prospective research of children receiving heterogeneous vaccines has shown that immunization is not associated with pediatric idiopathic nephrotic syndrome (NS) relapses. However, prospective data concentrating only on influenza (flu) virus vaccines are not available. METHODS: This multicenter prospective study was conducted in children with NS who received inactivated flu vaccines from June 2017 to July 2018. The day of flu vaccination was defined as day 0, and the period between prevaccination and postvaccination days was defined as - X to + Y (period from day - 180 to 0 as the precontrolled period). The primary outcome was the NS relapse rate from day 0 to + 30 as a direct association with vaccination compared with those in the precontrolled period. Exacerbation was defined as children experiencing more NS relapses after vaccination compared with those in the precontrolled period, or children starting any new immunosuppressants due to NS relapse after vaccination. RESULTS: Sixty-three children were included. Relapse rates were not significantly different between the precontrolled period and 0 to + 30 periods (0.38 vs. 0.19 times/person-year, p = 0.95). Although the exacerbation rate during the 0 to + 180 period in children without NS relapse in the precontrolled period was very low (4/54 [7.4 %]), children with at least one NS relapse in the precontrolled period showed a remarkable increase in the rate (4/9 [44.4%]; p = 0.01). CONCLUSIONS: Flu vaccination did not significantly precipitate the direct relapse of NS in children. However, it might increase the disease activity in children with at least one NS relapse within a half year before vaccination. A higher resolution version of the Graphical abstract is available as Supplementary information.
    Nov. 2022, Pediatric nephrology (Berlin, Germany), 38(7) (7), 1 - 10, English, International magazine
    Scientific journal

  • Posterior reversible encephalopathy syndromeを契機に診断に至った高安動脈炎の一例
    高田 めぐみ, 石森 真吾, 篠本 匡志, 服部 有香, 大西 聡, 起塚 庸, 古市 康子
    (一社)日本小児救急医学会, Nov. 2022, 日本小児救急医学会雑誌, 21(3) (3), 367 - 371, Japanese

  • 重症膿胸を契機に同定された選択的IgA欠損症の8歳男児例
    平場 裕美, 石森 真吾, 藤崎 拓也, 高成田 祐希, 篠本 匡志, 大西 聡, 服部 健吾, 起塚 庸, 久松 千恵子, 津川 二郎
    (一社)日本小児救急医学会, Nov. 2022, 日本小児救急医学会雑誌, 21(3) (3), 392 - 395, Japanese

  • 松浦 想, 宇津木 玲奈, 有田 英之, 前野 和重, 藪本 佳奈子, 齋藤 多恵子, 大西 聡, 石森 真吾, 起塚 庸, 原田 敦子
    (一社)日本小児神経外科学会, Nov. 2022, 小児の脳神経, 47(4) (4), 389 - 394, Japanese

  • 土肥 周平, 宇津木 玲奈, 大西 聡, 石森 真吾, 起塚 庸, 原田 敦子
    (一社)日本小児神経外科学会, Aug. 2022, 小児の脳神経, 47(3) (3), 320 - 324, Japanese

  • Sadayuki Nagai, Tomoko Horinouchi, Takeshi Ninchoji, Atsushi Kondo, Yuya Aoto, Shinya Ishiko, Nana Sakakibara, China Nagano, Tomohiko Yamamura, Hiroshi Kaito, Ryojiro Tanaka, Yuko Shima, Junya Fujimura, Naohiro Kamiyoshi, Shingo Ishimori, Koichi Nakanishi, Norishige Yoshikawa, Kazumoto Iijima, Kandai Nozu
    BACKGROUND: Cases of Henoch-Schönlein purpura nephritis (HSPN) with moderate severity were demonstrated to achieve good prognosis after treatment with renin-angiotensin system (RAS) inhibitors. However, some patients required additional treatment for recurrence after remission. This study aimed to clarify the effect of RAS inhibitors in HSPN cases with moderate severity, including the proportion of cases with recurrence and their response to additional treatment. METHODS: Among 126 patients diagnosed with HSPN between 1996 and 2019, 71 patients with clinicopathologically diagnosed HSPN of moderate severity, defined as ISKDC grade II-IIIa and serum albumin ≥ 2.5 g/dL, were investigated. RESULTS: Proteinuria became negative after RAS inhibitor treatment alone in all 71 cases. However, 16 (22.5%) had recurrence. Eleven recurrent cases achieved negative proteinuria again following additional treatment. At the last follow-up (median 46.5 months; IQR, 23.2-98.2), 5 patients had persistent mild proteinuria; no patients had estimated glomerular filtration rate < 90 mL/min/1.73 m2. The pathological findings in all recurrent cases were ISKDC grade IIIa. The 16 recurrent cases had significantly higher proportions of glomeruli with global/segmental sclerosis (25.0 vs. 0%, P < 0.001) and tubular atrophy/interstitial fibrosis (37.5 vs. 12.7%, P =0.0 24) than 55 cases without recurrence. CONCLUSIONS: Japanese childhood HSPN cases with moderate severity had good outcomes without need for corticosteroids or immunosuppressants, when prescribed RAS inhibitor treatment. Even in recurrent cases, abnormal proteinuria was transient, and prognosis was excellent. A higher resolution version of the Graphical abstract is available as Supplementary information.
    Aug. 2022, Pediatric nephrology (Berlin, Germany), 37(8) (8), 1845 - 1853, English, International magazine
    Scientific journal

  • Yuya Aoto, Takeshi Ninchoji, Hiroshi Kaito, Yuko Shima, Junya Fujimura, Naohiro Kamiyoshi, Shingo Ishimori, Koichi Nakanishi, Shogo Minamikawa, Shinya Ishiko, Nana Sakakibara, China Nagano, Tomoko Horinouchi, Tomohiko Yamamura, Sadayuki Nagai, Atsushi Kondo, Yosuke Inaguma, Ryojiro Tanaka, Norishige Yoshikawa, Kazumoto Iijima, Kandai Nozu
    BACKGROUND: Patients with immunoglobulin A nephropathy who present with focal mesangial proliferation (focal IgAN) can have a relatively good prognosis, and renin-angiotensin system inhibitor (RAS-i) is commonly used as the initial treatment. However, there are some complicated focal IgAN cases with resistance to RAS-i treatment or nephrotic-range proteinuria. Thus, combination therapy including corticosteroids is often used. This study aimed to evaluate the efficacy of combination therapy for complicated focal IgAN cases by comparing to diffuse mesangial proliferation (diffuse IgAN). METHODS: We conducted a multicenter retrospective study on 88 children who received 2-year combination therapy. The participants were classified based on pathological severity: focal IgAN (n = 26) and diffuse IgAN (n = 62). RESULTS: In total, 26 patients with focal IgAN and 52 with diffuse IgAN achieved proteinuria disappearance within 2 years (100 vs. 83.9%, P = 0.03). Moreover, the time to proteinuria disappearance was significantly shorter in the focal IgAN group than in the diffuse IgAN group (2.9 vs. 4.2 months, P < 0.01) and all patients with focal IgAN achieved proteinuria disappearance within 8 months. At the last observation (8.6 vs. 10.4 years, P = 0.13), only patients with diffuse IgAN (n = 12) had greater than stage 2 chronic kidney disease. In terms of irreversible adverse events, one patient exhibited cataracts. CONCLUSION: Combination therapy was significantly effective in patients with complicated focal IgAN. Moreover, the long-term prognosis was good, and the duration of combination therapy for complicated focal IgAN can be decreased to reduce adverse events.
    Jun. 2022, Clinical and experimental nephrology, 26(6) (6), 561 - 570, English, Domestic magazine
    Scientific journal

  • ステロイド感受性ネフローゼ症候群初発時にはSwitched memory B細胞の増加を認める
    永井 貞之, 藤村 順也, 忍頂寺 毅史, 石森 真吾, 神吉 直宙, 貝藤 裕史, 島 友子, 飯島 一誠, 野津 寛大, 堀之内 智子, 青砥 悠哉, 近藤 淳, 榊原 菜々, 増田 知佳, 北角 英晶
    (一社)日本腎臓学会, May 2022, 日本腎臓学会誌, 64(3) (3), 242 - 242, Japanese

  • Shingo Ishimori, Junya Fujimura, Shohei Oyama, Tadashi Shinomoto, Satoshi Onishi, Kengo Hattori, Yo Okizuka, Atsushi Nishiyama, Hirotaka Minami
    PURPOSE: Although morphological renal abnormalities in children with febrile urinary tract infection (fUTI) have been showed a predictive factor for recurrent infection, there are no available data on recurrence regarding sonographic renal enlargement at first fUTI episode, especially focusing on whether renal enlargement is temporary or not. MATERIALS AND METHODS: This cohort study reviewed the medical records of children who underwent renal ultrasound during their first fUTI during 2005-2013 and who were aged <15 years at diagnosis. We defined a kidney as temporary enlarged when the kidney length was ≥2 standard deviation above normal renal length for that age on sonography or a difference of ≥1 cm in sonographic length between the right and left kidneys, following normal renal length after antibiotic treatment. RESULTS: A total of 132 children were enrolled, of whom 11 had sonographic temporary temporal renal enlargement during their first fUTI. After completing antibiotic therapy for a first fUTI episode, 20 (15%) children had fUTI recurrence. The clinical characteristics at first episode of fUTI were not significantly different between renal enlargement and nonrenal enlargement groups. Children with temporary renal enlargement at a first fUTI episode had significantly lower fUTI recurrence-free survival proportion than those with nonrenal enlargement according to the Kaplan-Meier method (p = 0.003) Conclusion: Identification of temporary temporal renal enlargement as a predictor of recurrent fUTI may help identify children with a first episode of fUTI who will be warned of close monitoring.
    Apr. 2022, Urology journal, English, International magazine
    Scientific journal

  • 永井 貞之, 堀之内 智子, 増田 知佳, 北角 英晶, 近藤 淳, 青砥 悠哉, 榊原 菜々, 忍頂寺 毅史, 藤村 順也, 石森 真吾, 神吉 直宙, 貝藤 裕史, 島 友子, 飯島 一誠, 野津 寛大
    (一社)日本小児腎臓病学会, Apr. 2022, 日本小児腎臓病学会雑誌, 35(1Suppl.) (1Suppl.), 118 - 118, Japanese

  • Eri Okada, Naoya Morisada, Tomoko Horinouchi, Hideki Fujii, Takayuki Tsuji, Masayoshi Miura, Hideyuki Katori, Masashi Kitagawa, Kunio Morozumi, Takanobu Toriyama, Yuki Nakamura, Ryuta Nishikomori, Sadayuki Nagai, Atsushi Kondo, Yuya Aoto, Shinya Ishiko, Rini Rossanti, Nana Sakakibara, China Nagano, Tomohiko Yamamura, Shingo Ishimori, Joichi Usui, Kunihiro Yamagata, Kazumoto Iijima, Toshiyuki Imasawa, Kandai Nozu
    Introduction: Autosomal dominant tubulointerstitial kidney disease (ADTKD)-MUC1 is predominantly caused by frameshift mutations owing to a single-base insertion into the variable number tandem repeat (VNTR) region in MUC1. Because of the complexity of the variant hotspot, identification using short-read sequencers (SRSs) is challenging. Although recent studies have revealed the usefulness of long-read sequencers (LRSs), the prevalence of MUC1 variants in patients with clinically suspected ADTKD remains unknown. We aimed to clarify this prevalence and the genetic characteristics and clinical manifestations of ADTKD-MUC1 in a Japanese population using an SRS and an LRS. Methods: From January 2015 to December 2019, genetic analysis was performed using an SRS in 48 patients with clinically suspected ADTKD. Additional analyses were conducted using an LRS in patients with negative SRS results. Results: Short-read sequencing results revealed MUC1 variants in 1 patient harboring a cytosine insertion in the second repeat unit of the VNTR region; however, deeper VNTR regions could not be read by the SRS. Therefore, we conducted long-read sequencing analysis of 39 cases and detected MUC1 VNTR variants in 8 patients (in total, 9 patients from unrelated families). With the inclusion of family-affected patients (n = 31), the median age at the development of end-stage kidney disease (ESKD) was 45 years (95% CI: 40-40 years). Conclusion: In Japan, the detection rate of MUC1 variants in patients with clinically suspected ADTKD was 18.8%. More than 20% of patients with negative SRS results had MUC1 variants detected by an LRS.
    Apr. 2022, Kidney international reports, 7(4) (4), 857 - 866, English, International magazine
    Scientific journal

  • Rini Rossanti, Tomoko Horinouchi, Tomohiko Yamamura, China Nagano, Nana Sakakibara, Shinya Ishiko, Yuya Aoto, Atsushi Kondo, Sadayuki Nagai, Eri Okada, Shingo Ishimori, Hiroaki Nagase, Satoshi Matsui, Keiichi Tamagaki, Yoshifumi Ubara, Masahiko Nagahama, Yuko Shima, Koichi Nakanishi, Takeshi Ninchoji, Masafumi Matsuo, Kazumoto Iijima, Kandai Nozu
    Background: Alport syndrome is an inherited disorder characterized by progressive renal disease, variable sensorineural hearing loss, and ocular abnormalities. Although many pathogenic variants in COL4A3 and COL4A4 have been identified in patients with autosomal Alport syndrome, synonymous mutations in these genes have rarely been identified. Methods: We conducted in silico splicing analysis using Human Splicing Finder (HSF) and Alamut to predict splicing domain strength and disruption of the sites. Furthermore, we performed in vitro splicing assays using minigene constructs and mRNA analysis of patient samples to determine the pathogenicity of four synonymous variants detected in four patients with suspected autosomal dominant Alport syndrome (COL4A3 [c.693G>A (p.Val231=)] and COL4A4 [c.1353C>T (p.Gly451=), c.735G>A (p.Pro245=), and c.870G>A (p.Lys290=)]). Results: Both in vivo and in vitro splicing assays showed exon skipping in two out of the four synonymous variants identified (c.735G>A and c.870G>A in COL4A4). Prediction analysis of wild-type and mutated COL4A4 sequences using HSF and Alamut suggested these two variants may lead to the loss of binding sites for several splicing factors, e.g., in acceptor sites and exonic splicing enhancers. The other two variants did not induce aberrant splicing. Conclusions: This study highlights the pitfalls of classifying the functional consequences of variants by a simple approach. Certain synonymous variants, although they do not alter the amino acid sequence of the encoded protein, can dramatically affect pre-mRNA splicing, as shown in two of our patients. Our findings indicate that transcript analysis should be carried out to evaluate synonymous variants detected in patients with autosomal dominant Alport syndrome.
    Mar. 2022, Kidney360, 3(3) (3), 497 - 505, English, International magazine
    Scientific journal

  • 中等度紫斑病性腎炎へのレニン・アンジオテンシン系阻害薬治療に関する検討
    永井 貞之, 堀之内 智子, 忍頂寺 毅史, 近藤 淳, 青砥 悠哉, 榊原 菜々, 石森 真吾, 藤村 順也, 神吉 直宙, 貝藤 裕史, 田中 亮二郎, 島 友子, 飯島 一誠, 野津 寛大
    (公社)日本小児科学会, Feb. 2022, 日本小児科学会雑誌, 126(2) (2), 255 - 255, Japanese

  • Takayuki Miyamoto, Yoshitaka Honda, Kazushi Izawa, Nobuo Kanazawa, Saori Kadowaki, Hidenori Ohnishi, Masakazu Fujimoto, Naotomo Kambe, Naoya Kase, Takeshi Shiba, Yasuo Nakagishi, Shuji Akizuki, Kosaku Murakami, Masahiro Bamba, Yutaka Nishida, Ayano Inui, Tomoo Fujisawa, Daisuke Nishida, Naomi Iwata, Yoshikazu Otsubo, Shingo Ishimori, Momoko Nishikori, Kiminobu Tanizawa, Tomoyuki Nakamura, Takeshi Ueda, Yoko Ohwada, Yu Tsuyusaki, Masaki Shimizu, Takasuke Ebato, Kousho Iwao, Akiharu Kubo, Toshinao Kawai, Tadashi Matsubayashi, Tatsuhiko Miyazaki, Tomohiro Kanayama, Masahiko Nishitani-Isa, Hiroshi Nihira, Junya Abe, Takayuki Tanaka, Eitaro Hiejima, Satoshi Okada, Osamu Ohara, Megumu K Saito, Junko Takita, Ryuta Nishikomori, Takahiro Yasumi
    PURPOSE: Upregulation of type I interferon (IFN) signaling has been increasingly detected in inflammatory diseases. Recently, upregulation of the IFN signature has been suggested as a potential biomarker of IFN-driven inflammatory diseases. Yet, it remains unclear to what extent type I IFN is involved in the pathogenesis of undifferentiated inflammatory diseases. This study aimed to quantify the type I IFN signature in clinically undiagnosed patients and assess clinical characteristics in those with a high IFN signature. METHODS: The type I IFN signature was measured in patients' whole blood cells. Clinical and biological data were collected retrospectively, and an intensive genetic analysis was performed in undiagnosed patients with a high IFN signature. RESULTS: A total of 117 samples from 94 patients with inflammatory diseases, including 37 undiagnosed cases, were analyzed. Increased IFN signaling was observed in 19 undiagnosed patients, with 10 exhibiting clinical features commonly found in type I interferonopathies. Skin manifestations, observed in eight patients, were macroscopically and histologically similar to those found in proteasome-associated autoinflammatory syndrome. Genetic analysis identified novel mutations in the PSMB8 gene of one patient, and rare variants of unknown significance in genes linked to type I IFN signaling in four patients. A JAK inhibitor effectively treated the patient with the PSMB8 mutations. Patients with clinically quiescent idiopathic pulmonary hemosiderosis and A20 haploinsufficiency showed enhanced IFN signaling. CONCLUSIONS: Half of the patients examined in this study, with undifferentiated inflammatory diseases, clinically quiescent A20 haploinsufficiency, or idiopathic pulmonary hemosiderosis, had an elevated type I IFN signature.
    2022, Frontiers in immunology, 13, 905960 - 905960, English, International magazine
    Scientific journal

  • 小山 智史, 石森 真吾, 大西 聡
    日本小児呼吸器学会, Jan. 2022, 日本小児呼吸器学会雑誌, 32(2) (2), 125 - 133, Japanese

  • Shingo Ishimori, Takashi Ando, Kaori Kikunaga, Chikako Terano, Mai Sato, Fumiyo Komaki, Riku Hamada, Yuko Hamasaki, Yoshinori Araki, Yoshimitsu Gotoh, Koichi Nakanishi, Hitoshi Nakazato, Takeshi Matsuyama, Kazumoto Iijima, Norishige Yoshikawa, Shuichi Ito, Masataka Honda, Kenji Ishikura
    Although vaccination may precipitate relapses of nephrotic syndrome (NS) in children with idiopathic NS, no data are available regarding NS activity regarding influenza (flu) virus infections and NS relapses after receiving inactivated flu vaccines. We conducted a nationwide study of children aged 6 months to 15 years with idiopathic NS to assess the relationship between NS relapse, flu vaccination, and flu infections. We used a multivariate Poisson regression model (MPRM) to calculate the risk ratio (RR) for flu infection and for NS relapse in children with and without flu vaccination. Data of 306 children were assessed. The MPRM in all 306 children showed a significantly lower RR for flu infection (RR: 0.21, 95% confidence interval CI 0.11-0.38) and for NS relapse (RR: 0.22, 95% CI 0.14-0.35) in children receiving flu vaccination compared with unvaccinated children. In an additional MPRM only among 102 children receiving flu vaccination, they had a significantly lower risk for NS relapse during the post-vaccination period (RR: 0.31. 95% CI 017-0.56) compared with the pre-vaccination period. Although our study was observational, based on the favorable results of flu vaccinations regarding flu infections and NS relapse, the vaccine may be recommended for children with NS.
    Dec. 2021, Scientific reports, 11(1) (1), 23305 - 23305, English, International magazine
    Scientific journal

  • 食道入口部に嵌入した異物によって気道緊急に陥った11ヵ月女児例
    山根 弘美, 起塚 庸, 大西 聡, 篠本 匡志, 李 崇至, 石森 真吾, 田原 慎太郎, 土居 ゆみ, 岡本 光正, 津川 二郎
    (一社)日本小児救急医学会, Nov. 2021, 日本小児救急医学会雑誌, 20(3) (3), 446 - 450, Japanese

  • 皮疹の出現の遅れから診断に苦慮し重症化に至った、マイコプラズマ関連Stevens-Johnson症候群の1例
    北角 英晶, 石森 真吾, 山田 陽三, 藤村 順也, 忍頂寺 毅史, 西山 敦史, 飯島 一誠, 米谷 昌彦
    (一社)日本小児救急医学会, Nov. 2021, 日本小児救急医学会雑誌, 20(3) (3), 469 - 473, Japanese

  • Hideki Matsumura, Shingo Ishimori, Yuko Fujii, Akira Ashida
    Nov. 2021, The Journal of pediatrics, 238, 333 - 334, English, International magazine
    Scientific journal

  • China Nagano, Yutaka Takaoka, Koichi Kamei, Riku Hamada, Daisuke Ichikawa, Kazuki Tanaka, Yuya Aoto, Shinya Ishiko, Rini Rossanti, Nana Sakakibara, Eri Okada, Tomoko Horinouchi, Tomohiko Yamamura, Yurika Tsuji, Yuko Noguchi, Shingo Ishimori, Hiroaki Nagase, Takeshi Ninchoji, Kazumoto Iijima, Kandai Nozu
    INTRODUCTION: WT1 missense mutation in exon 8 or 9 causes infantile nephrotic syndrome with early progression to end-stage kidney disease (ESKD), Wilms tumor, and 46,XY female. However, some patients with missense mutations in exon 8 or 9 progress to ESKD in their teens or later. Therefore, we conducted a systematic review and functional analysis of WT1 transcriptional activity. METHODS: We conducted a systematic review of 174 cases with WT1 exon 8 or 9 missense variants from our cohort (n=13) and previous reports (n=161). Of these cases, mild and severe genotypes were selected for further in vitro functional analysis using luciferase assay. RESULTS: The median age of developing ESKD was 1.17 years. A comparative study was conducted among three WT1 genotype classes: mutations of the DNA-binding site (DBS group), mutations outside the DNA-binding site but at sites important for zinc finger structure formation by 2 cysteines and 2 histidines (C2H2 group), and mutations leading to other amino acid changes (Others group). The DBS group showed the severest phenotype and the C2H2 group was intermediate, whereas the Others group showed the mildest phenotype (developing ESKD at 0.90, 2.00, and 3.92 years, respectively, with significant differences). In vitro functional analysis showed dominant-negative effects for all variants; in addition, the DBS and C2H2 mutations were associated with significantly lower WT1 transcriptional activity than the other mutations. CONCLUSION: Not only the DNA-binding site but also C2H2 zinc finger structure sites are important for maintaining WT1 transcriptional activity, and their mutation causes severe clinical symptoms.
    Aug. 2021, Kidney international reports, 6(8) (8), 2114 - 2121, English, International magazine
    Scientific journal

  • Shingo Ishimori, Shizuka Nagase, Atsuko Kanagawa, Tomoshi Nakajiri, Sora Okita, Yoshinobu Oyazato, Atsushi Nishiyama, Masahiko Yonetani
    BACKGROUND: Continuous negative extra-thoracic pressure (CNEP) can prevent children with apnea developing severe respiratory infection with endotracheal intubation. Little is known about children with mild acute respiratory disease, especially with a focus on clinical respiratory symptoms. METHODS: We conducted a prospective, observational study between July 2014 and July 2017 to evaluate the safety of a modified setting of CNEP in hospitalized children with symptoms of chest-wall retraction or nasal alar breathing without the requirement for immediate intubation therapy in a single center. A modified setting of CNEP was defined as 4 h of treatment comprising 3 consecutive hours of CNEP followed by 1 h of rest. RESULTS: We studied 19 hospitalized children with retraction or nasal breathing but no possible state of endotracheal intubation. The median age at admission was 0.9 years and the duration of CNEP was 6 days. No sedative drugs were used. The percentage of children with retraction or nasal breathing after 24 h from initiation of CNEP was significantly decreased compared with that just before CNEP (68% vs 100%, P = 0.02). Logistic regression showed no statistical evidence of contributing factors for pulmonary symptoms. No patients were transferred to receive intubation, but one boy reinitiated respiratory support within 6 months after discharge. No children had adverse events of upper airway obstruction, skin injury, interfering with access, hypothermia, discomfort from fitting a cuirass, and neck excoriation. CONCLUSIONS: Our results suggest that a modified setting of CNEP management can be tolerated and continued without concern of adverse events.
    Jul. 2021, Pediatrics international : official journal of the Japan Pediatric Society, 63(7) (7), 838 - 844, English, International magazine
    Scientific journal

  • 石森 真吾, 藤村 順也, 堀之内 智子, 山村 智彦, 榊原 菜々, 長野 智那, 西田 浩輔, 藤岡 一路, 忍頂寺 毅史, 野津 寛大
    日本小児泌尿器科学会, Jun. 2021, 日本小児泌尿器科学会雑誌, 30(2) (2), 202 - 202, Japanese

  • 忍頂寺 毅史, 堀之内 智子, 近藤 淳, 永井 貞之, 青砥 悠哉, 榊原 菜々, 石森 真吾, 藤村 順也, 神吉 直宙, 貝藤 裕史, 田中 亮二郎, 島 友子, 中西 浩一, 吉川 徳茂, 飯島 一誠, 野津 寛大
    (一社)日本小児腎臓病学会, May 2021, 日本小児腎臓病学会雑誌, 34(1Suppl.) (1Suppl.), 111 - 111, Japanese

  • 永井 貞之, 堀之内 智子, 近藤 淳, 青砥 悠哉, 榊原 菜々, 忍頂寺 毅史, 石森 真吾, 藤村 順也, 神吉 直宙, 貝藤 裕史, 田中 亮二郎, 島 友子, 中西 浩一, 吉川 徳茂, 野津 寛大, 飯島 一誠
    (一社)日本小児腎臓病学会, May 2021, 日本小児腎臓病学会雑誌, 34(1Suppl.) (1Suppl.), 112 - 112, Japanese

  • Tomohiko Inoue, China Nagano, Masafumi Matsuo, Tomohiko Yamamura, Nana Sakakibara, Tomoko Horinouchi, Yugo Shibagaki, Daisuke Ichikawa, Yuya Aoto, Shinya Ishiko, Shingo Ishimori, Rini Rossanti, Kazumoto Iijima, Kandai Nozu
    May 2021, Clinical and experimental nephrology, 25(5) (5), 564 - 564, English, Domestic magazine

  • Shingo Ishimori, Yo Okizuka, Satoshi Onishi, Tadashi Shinomoto, Hirotaka Minami
    Continuous negative extrathoracic pressure (CNEP) might be beneficial for children with severe respiratory tract infections. However, there are no available data on the predictors of its failure among individuals with respiratory syncytial virus (RSV) infections. Here, we conducted a retrospective cohort study between October 1, 2015 and October 31, 2018 in hospitalized children with moderate to severe symptoms of respiratory syncytial virus (RSV) infections. We divided 45 children requiring CNEP ventilation with a non-fluctuating negative pressure of - 12 cm H2O into two groups. They were classified based on improvement or deterioration of their respiratory disorder under CNEP ventilation (responder group: n = 27, failure group: n = 18). Based on the univariate analysis, the responder and failure groups significantly differed in terms of median age, days elapsed from RSV onset to the initiation of CNEP, white blood cell count (WBC), titer of venous pCO2, body temperature at admission, and modified Wood-Downes Score (mWDS) 6 h after initiating CNEP. Based on a logistic regression analysis adjusted for age < 1 year upon admission, less than 5 days elapsed from RSV onset to the initiation of CNEP, not high value of WBC and body temperature at admission, and high values of mWDS 6 h after initiating CNEP were found to be significant independent risk factors for CNEP ventilation failure. The former two variables were associated with less failure (odds ratio was approximately 5), and the latter two variables are associated with more failure (odds ratio was approximately 8-9). Thus, CNEP could be a valid option for children with moderate to severe RSV infections, especially in those who were aged > 1 year, and specific clinical and laboratory findings.
    Apr. 2021, Scientific reports, 11(1) (1), 8063 - 8063, English, International magazine
    Scientific journal

  • Mai Sato, Kenji Ishikura, Takashi Ando, Kaori Kikunaga, Chikako Terano, Riku Hamada, Shingo Ishimori, Yuko Hamasaki, Yoshinori Araki, Yoshimitsu Gotoh, Koichi Nakanishi, Hitoshi Nakazato, Takeshi Matsuyama, Kazumoto Iijima, Norishige Yoshikawa, Shuichi Ito, Masataka Honda
    BACKGROUND: Information on the epidemiology of idiopathic nephrotic syndrome (INS) in children, complications of INS and the side effects of steroid therapy is scarce. METHODS: The Japanese Pediatric Survey Holding Information of Nephrotic Syndrome, a nationwide cohort study, was conducted by the Japanese Study Group of Renal Disease in Children and enrolled 2099 children with newly diagnosed INS between 1 January 2010 and 31 December 2012. We conducted a follow-up study of the complications during the first onset and the patients' prognosis in this cohort. RESULTS: We obtained follow-up data on 999 children (672 males) with a median age at onset of 4.5 years [interquartile range (IQR) 2.8-9.4] and a median follow-up period of 4.1 years (IQR 2.5-5.1). At the first onset, 24% of patients experienced severe acute kidney injury (AKI), defined as a serum creatinine increase to a level two or more times the baseline. On logistic regression analysis, age, hematuria, severe hypoalbuminemia (serum albumin <1.0 g/dL) and severe bacterial infection were not independent factors, but female sex {hazard ratio [HR] 1.5 [95% confidence interval (CI) 1.1-1.7]} and hypertension [HR 4.0 (95% CI 2.6-6.0)] were significantly related to AKI. During the observation period, ocular hypertension requiring treatment occurred in 17.4% of patients, among which 0.4% received surgical treatment. Progression to frequently relapsing nephrotic syndrome/steroid-dependent nephrotic syndrome in 3 years was seen in 44.2% of the patients and was shown by the Cox regression analysis to be significantly related to younger age and days until remission at the first episode, but not to sex, hematuria, the minimum serum albumin level or AKI. Two patients died during the observation period. One patient showed progression to end-stage kidney disease. CONCLUSION: Based on the results of a multicenter questionnaire survey, the overall survival and renal survival rates were found to be excellent. However, proper management of complications, particularly in AKI and ocular hypertension, is mandatory.
    Feb. 2021, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 36(3) (3), 475 - 481, English, International magazine
    Scientific journal

  • Nana Sakakibara, China Nagano, Shinya Ishiko, Tomoko Horinouchi, Tomohiko Yamamura, Shogo Minamikawa, Yuko Shima, Koichi Nakanishi, Shingo Ishimori, Naoya Morisada, Kazumoto Iijima, Kandai Nozu
    BACKGROUND: Dent disease is associated with low molecular weight proteinuria and hypercalciuria and caused by pathogenic variants in either of two genes: CLCN5 (Dent disease 1) and OCRL (Dent disease 2). It is generally not accompanied by extrarenal manifestations and it is difficult to distinguish Dent disease 1 from Dent disease 2 without gene testing. We retrospectively compared the characteristics of these two diseases using one of the largest cohorts to date. METHODS: We performed gene testing for clinically suspected Dent disease, leading to the genetic diagnosis of 85 males: 72 with Dent disease 1 and 13 with Dent disease 2. A retrospective review of the clinical findings and laboratory data obtained from questionnaires submitted in association with the gene testing was conducted for these cases. RESULTS: The following variables had significantly higher levels in Dent disease 2 than in Dent disease 1: height standard deviation score (height SDS), serum creatinine-based estimated GFR (Cr-eGFR) (median: 84 vs. 127 mL/min/1.73 m2, p < 0.01), serum aspartate aminotransferase (AST), serum alanine aminotransferase (ALT), serum lactate dehydrogenase (LDH), serum creatine phosphokinase (CK), serum potassium, serum inorganic phosphorus, serum uric acid, urine protein/creatinine ratio (median: 3.5 vs. 1.6 mg/mg, p < 0.01), and urine calcium/creatinine ratio. There were no significant differences in serum sodium, serum calcium, alkaline phosphatase (ALP), urine β2-microglobulin, incidence of nephrocalcinosis, and prevalence of intellectual disability or autism spectrum disorder. CONCLUSIONS: The clinical and laboratory features of Dent disease 1 and Dent disease 2 were shown in this study. Notably, patients with Dent disease 2 showed kidney dysfunction at a younger age, which should provide a clue for the differential diagnosis of these diseases.
    Dec. 2020, Pediatric nephrology (Berlin, Germany), 35(12) (12), 2319 - 2326, English, International magazine
    Scientific journal

  • Tomohiko Yamamura, Tomoko Horinouchi, China Nagano, Takashi Omori, Nana Sakakibara, Yuya Aoto, Shinya Ishiko, Koichi Nakanishi, Yuko Shima, Hiroaki Nagase, Hiroki Takeda, Rini Rossanti, Ming Juan Ye, Yoshimi Nozu, Shingo Ishimori, Takeshi Ninchoji, Hiroshi Kaito, Naoya Morisada, Kazumoto Iijima, Kandai Nozu
    Early kidney failure in the hereditary type IV collagen disease, Alport syndrome, can be delayed by renin-angiotensin inhibitors. However, whether all patients and all different genotypes respond equally well to this kidney-protective therapy remains unclear. Here, we performed a retrospective study on 430 patients with male X-linked Alport syndrome to examine the relationships among kidney prognosis, genotype, and treatment effect in a large cohort of Japanese patients. We analyzed the clinical features, genotype-phenotype correlation, and kidney survival period for patients treated with or without renin-angiotensin inhibitors. As a result, the median kidney survival period of patients in this cohort was found to be at 35 years with a strong genotype-phenotype correlation. The median age at the onset of end stage kidney disease (ESKD) significantly differed between patients treated with and without renin-angiotensin inhibitors (over 50 years versus 28 years, respectively). Moreover, these drugs delayed the onset of ESKD in patients with truncating variants for 12 years, extending the median age from 16 years to 28 years. Thus, our results confirmed a strong genotype-phenotype correlation in patients with male X-linked Alport syndrome. Additionally, it was suggested that renin-angiotensin inhibitors could significantly delay ESKD progression. Despite these therapies, patients with truncating variants developed ESKD at the median age of 28 years.
    Dec. 2020, Kidney international, 98(6) (6), 1605 - 1614, English, International magazine
    Scientific journal

  • 体外式持続陰圧換気法による呼吸補助療法が奏功した重症特発性縦隔気腫の4歳児例
    小山 智史, 石森 真吾, 篠本 匡志, 大西 聡, 起塚 庸, 内山 敬達, 南 宏尚
    (一社)日本小児救急医学会, Nov. 2020, 日本小児救急医学会雑誌, 19(3) (3), 323 - 327, Japanese

  • Shingo Ishimori, Koichi Kamei, Takashi Ando, Takahisa Yoshikawa, Yuji Kano, Hiroko Nagata, Ken Saida, Mai Sato, Masao Ogura, Shuichi Ito, Kenji Ishikura
    BACKGROUND: Immunization with various vaccines is considered desirable for children with idiopathic nephrotic syndrome (NS) because of their high risk of severe infections. Vaccinations may precipitate relapses of NS, but there is no available data regarding inactivated influenza (flu) virus vaccines. METHODS: We retrospectively reviewed the medical records of children with NS who had received flu vaccines between 2002 and 2015. The day of flu vaccination was defined as day 0, and the period between the pre-vaccination and the post-vaccination days was defined as - X to + Y. The risk ratios and their 95% confidence intervals for NS relapse rate were estimated by generalized estimating equation (GEE) Poisson regression. RESULTS: A total of 104 pediatric patients received 208 flu vaccines. The mean age at onset of NS was at 4.85 ± 3.87 years old. There were 261 NS relapses between days - 180 and + 180. Compared with the relapse rate in the - 180 to 0 interval (1.19 times/person-year), those in 0 to + 30 (1.23), + 31 to + 60 (1.58), + 61 to + 90 (1.41), + 91 to + 120 (1.41), and + 121 to + 180 (1.32) days groups were slightly increased, but without significance. Multivariate analysis using GEE Poisson regression also showed no significant increase in relapse rate in each day group compared with days - 180 to 0. Risk ratios for NS relapse were significantly higher in children who were treated with steroids at the first vaccination. CONCLUSIONS: Our results suggest that flu vaccines should not be avoided in children with NS based on the potential for NS relapses.
    Nov. 2020, Clinical and experimental nephrology, 24(11) (11), 1069 - 1076, English, Domestic magazine
    Scientific journal

  • 土肥 周平, 宇津木 玲奈, 大西 聡, 石森 真吾, 起塚 庸, 伊倉 義弘, 本田 美紗, 柴田 浩憲, 長谷川 奉延, 玉置 知子, 原田 敦子
    (一社)日本小児神経外科学会, Oct. 2020, 小児の脳神経, 45(3) (3), 301 - 301, Japanese

  • 左室心筋緻密化障害による心原性ショックから急性腎不全に至り、腹膜透析を導入し、在宅移行を行った乳児例
    篠本 匡志, 起塚 庸, 松井 美樹, 石森 真吾, 大西 聡, 内山 敬達, 南 宏尚
    (一社)日本集中治療医学会, Sep. 2020, 日本集中治療医学会雑誌, 27(Suppl.) (Suppl.), 707 - 707, Japanese

  • Shinya Ishiko, Tomoko Horinouchi, Rika Fujimaru, Yuko Shima, Hiroshi Kaito, Ryojiro Tanaka, Shingo Ishimori, Atsushi Kondo, Sadayuki Nagai, Yuya Aoto, Nana Sakakibara, China Nagano, Tomohiko Yamamura, Momoka Yoshimura, Koichi Nakanishi, Junya Fujimura, Naohiro Kamiyoshi, Hiroaki Nagase, Norishige Yoshikawa, Kazumoto Iijima, Kandai Nozu
    Galactose-deficient IgA1 (Gd-IgA1) is important in the pathogenesis of IgA nephropathy (IgAN). A Gd-IgA1-specific monoclonal antibody (KM55) has revealed glomerular Gd-IgA1 deposition solely in patients with IgAN and IgA vasculitis with nephritis (IgAV-N). However, this specificity is controversial and has not been demonstrated in pediatric patients. Here, we conducted double-immunofluorescence staining of IgA and Gd-IgA1 in 60 pediatric patients with various glomerular diseases. We divided patients into four groups: (1) patients with IgAN and IgAV-N (n = 23); (2) patients with immunocomplex-mediated glomerulonephritis accompanied by IgA deposition, including lupus nephritis, membranoproliferative glomerulonephritis, and membranous nephropathy (n = 14); (3) patients with other glomerular diseases involving IgA deposition, including idiopathic nephrotic syndrome (INS), oligomeganephronia, Alport syndrome, dense deposit disease, and crescentic glomerulonephritis (n = 11); and (4) patients with IgA-negative diseases including INS, membranoproliferative glomerulonephritis, membranous nephropathy, oligomeganephronia, Alport syndrome, C3 glomerulonephritis, poststreptococcal acute glomerulonephritis, and hemolytic uremic syndrome (n = 12). KM55 staining revealed Gd-IgA1-positive findings in 23/23 patients in Group 1 and 13/14 patients in Group 2, but not in patients in Groups 3 or 4. Therefore, KM55 may detect incidental IgA deposition in pediatric patients. Gd-IgA1 may be involved in the pathogenesis of these immune-related diseases; alternatively, KM55 may recognize IgA-related immunocomplexes in a non-specific manner.
    Aug. 2020, Scientific reports, 10(1) (1), 14026 - 14026, English, International magazine
    Scientific journal

  • Tomoko Horinouchi, Tomohiko Yamamura, Shogo Minamikawa, China Nagano, Nana Sakakibara, Koichi Nakanishi, Yuko Shima, Naoya Morisada, Shinya Ishiko, Yuya Aoto, Hiroaki Nagase, Hiroki Takeda, Rini Rossanti, Shingo Ishimori, Hiroshi Kaito, Masafumi Matsuo, Kazumoto Iijima, Kandai Nozu
    BACKGROUND: X-linked Alport syndrome (XLAS) is a progressive, hereditary glomerular nephritis of variable severity caused by pathogenic COL4A5 variants. Currently, genetic testing is widely used for diagnosing XLAS; however, determining the pathogenicity of variants detected by such analyses can be difficult. Intronic variants or synonymous variants may cause inherited diseases by inducing aberrant splicing. Transcript analysis is necessary to confirm the pathogenicity of such variants, but it is sometimes difficult to extract mRNA directly from patient specimens. METHODS: In this study, we conducted in vitro splicing analysis using a hybrid minigene assay and specimens from three XLAS patients with synonymous variants causing aberrant splicing, including previously reported pathogenic mutations in the same codon. The variants were c.876 A>T (p.Gly292=), c.2358 A>G (p.Pro786=), and c.3906 A>G (p.Gln1302=). RESULTS: The results from our hybrid minigene assay were sufficient to predict splicing abnormalities; c.876 A>T cause 17-bp del and 35-bp del, c.2358 A>G cause exon 29 skipping, c.3906 A>G cause exon 42 skipping, which are very likely to cause pathogenicity. Further, patients carrying c.2358 A>G exhibited a mild phenotype that may have been associated with the presence of both normal and abnormally spliced transcripts. CONCLUSION: The minigene system was shown to be a sensitive assay and a useful tool for investigating the pathogenicity of synonymous variants.
    Aug. 2020, Molecular genetics & genomic medicine, 8(8) (8), e1342, English, International magazine
    Scientific journal

  • 小児における糖鎖不全IgA1免疫染色
    石河 慎也, 野津 寛大, 永井 貞之, 青砥 悠哉, 榊原 菜々, 長野 智那, 堀之内 智子, 山村 智彦, 石森 真吾, 貝藤 裕史, 田中 亮二郎, 飯島 一誠
    (一社)日本腎臓学会, Jul. 2020, 日本腎臓学会誌, 62(4) (4), 255 - 255, Japanese

  • 神経線維腫症1型の診断時に著明な高血圧を呈した9歳男児例
    前田 晶子, 藤村 順也, 石森 真吾, 北角 英晶, 上村 和也, 松本 和徳, 金川 温子, 中尻 智史, 平田 量子, 橋本 総子, 沖田 空, 阪田 美穂, 親里 嘉展, 西山 敦史, 米谷 昌彦
    日本小児高血圧研究会, Jul. 2020, 日本小児高血圧研究会誌, 17(1) (1), 18 - 22, Japanese

  • 生後1ヵ月時に拡張型心筋症に伴うショックにより末期腎不全に至り、持続血液透析導入後に腹膜透析へ移行した1例
    松井 美樹, 石森 真吾, 大西 聡, 服部 健吾, 起塚 庸, 津川 二郎, 内山 敬達, 南 宏尚
    日本小児腎不全学会, Jul. 2020, 日本小児腎不全学会雑誌, 40, 230 - 234, Japanese

  • Tomohiko Inoue, China Nagano, Masafumi Matsuo, Tomohiko Yamamura, Nana Sakakibara, Tomoko Horinouchi, Yugo Shibagaki, Daisuke Ichikawa, Yuya Aoto, Shinya Ishiko, Shingo Ishimori, Rini Rossanti, Kazumoto Iijima, Kandai Nozu
    BACKGROUND: In recent years, the elucidation of splicing abnormalities as a cause of hereditary diseases has progressed. However, there are no comprehensive reports of suspected splicing variants in the CLCN5 gene in Dent disease cases. We reproduced gene mutations by mutagenesis, inserted the mutated genes into minigene vectors, and investigated the pathogenicity and onset mechanisms of these variants. METHODS: We conducted functional splicing assays using a hybrid minigene for six suspected splicing variants (c.105G>A, c.105+5G>C, c.106-17T>G, c.393+4A>G, c.517-8A>G, c.517-3C>A) in CLCN5. We extracted information on these variants from the Human Gene Mutation Database. We reproduced minigene vectors with the insertion of relevant exons with suspected splicing variants. We then transfected these minigene vectors into cultured cells and extracted and analyzed the mRNA. In addition, we conducted in silico analysis to confirm our minigene assay results. RESULTS: We successfully determined that five of these six variants are pathogenic via the production of splicing abnormalities. One showed only normal transcript production and was thus suspected of not being pathogenic (c.106-17T>G). CONCLUSION: We found that five CLCN5 variants disrupted the original splice site, resulting in aberrant splicing. It is sometimes difficult to obtain mRNA from patient samples because of the fragility of mRNA or its low expression level in peripheral leukocytes. Our in vitro system can be used as an alternative to in vivo assays to determine the pathogenicity of suspected splicing variants.
    Jul. 2020, Clinical and experimental nephrology, 24(7) (7), 606 - 612, English, Domestic magazine
    Scientific journal

  • Shogo Minamikawa, Saori Miwa, Tetsuji Inagaki, Kei Nishiyama, Hiroshi Kaito, Takeshi Ninchoji, Tomohiko Yamamura, China Nagano, Nana Sakakibara, Shingo Ishimori, Shigeo Hara, Norishige Yoshikawa, Daishi Hirano, Ryoko Harada, Riku Hamada, Natsuki Matsunoshita, Michio Nagata, Yuko Shima, Koichi Nakanishi, Hiroaki Nagase, Hiroki Takeda, Naoya Morisada, Kazumoto Iijima, Kandai Nozu
    Null variants in LAMB2 cause Pierson syndrome (PS), a severe congenital nephrotic syndrome with ocular and neurological defects. Patients' kidney specimens show complete negativity for laminin β2 expression on glomerular basement membrane (GBM). In contrast, missense variants outside the laminin N-terminal (LN) domain in LAMB2 lead to milder phenotypes. However, we experienced cases not showing these typical genotype-phenotype correlations. In this paper, we report six PS patients: four with mild phenotypes and two with severe phenotypes. We conducted molecular studies including protein expression and transcript analyses. The results revealed that three of the four cases with milder phenotypes had missense variants located outside the LN domain and one of the two severe PS cases had a homozygous missense variant located in the LN domain; these variant positions could explain their phenotypes. However, one mild case possessed a splicing site variant (c.3797 + 5G>A) that should be associated with a severe phenotype. Upon transcript analysis, this variant generated some differently sized transcripts, including completely normal transcript, which could have conferred the milder phenotype. In one severe case, we detected the single-nucleotide substitution of c.4616G>A located outside the LN domain, which should be associated with a milder phenotype. However, we detected aberrant splicing caused by the creation of a novel splice site by this single-base substitution. These are novel mechanisms leading to an atypical genotype-phenotype correlation. In addition, all four cases with milder phenotypes showed laminin β2 expression on GBM. We identified novel mechanisms leading to atypical genotype-phenotype correlation in PS.
    Apr. 2020, Journal of human genetics, 65(4) (4), 355 - 362, English, International magazine
    Scientific journal

  • 小児IgA腎症の組織学的軽症例と重症例における多剤併用療法の効果に関する比較
    青砥 悠哉, 野津 寛大, 近藤 淳, 石河 慎也, 榊原 菜々, 長野 智那, 藤村 順也, 堀之内 智子, 山村 智彦, 神吉 直宙, 石森 真吾, 島 友子, 中西 浩一, 吉川 徳茂, 貝藤 裕史, 飯島 一誠
    (公社)日本小児科学会, Feb. 2020, 日本小児科学会雑誌, 124(2) (2), 303 - 303, Japanese

  • 城戸 拓海, 西山 敦史, 藤村 順也, 松本 和徳, 金川 温子, 中尻 智史, 平田 量子, 石森 真吾, 橋本 総子, 沖田 空, 阪田 美穂, 親里 嘉展, 中田 一弥, 切田 学, 米谷 昌彦
    兵庫県小児科医会, 2020, 兵庫県小児科医会報, (73) (73), 26 - 31, Japanese

  • 吉田 阿寿美, 石森 真吾, 坊 亮輔, 阪田 美穂, 粟野 宏之, 親里 嘉展, 西山 敦史, 米谷 昌彦
    (公社)日本小児科学会, Dec. 2019, 日本小児科学会雑誌, 123(12) (12), 1812 - 1818, Japanese

  • Shingo Ishimori, Hiroshi Kaito, Yuko Shima, Ichiro Kamioka, Kiyoshi Hamahira, Kandai Nozu, Koichi Nakanishi, Ryojiro Tanaka, Norishige Yoshikawa, Kazumoto Iijima
    Objectives: Acute kidney injury (AKI) at onset of adult systemic lupus erythematosus (SLE) is a risk factor for end stage kidney disease (ESKD). However, data on childhood-onset lupus nephritis (LN) with AKI are scarce.Methods: We retrospectively reviewed the complete files of pediatric SLE patients from 1995 to 2010. All patients underwent kidney biopsy promptly after diagnosis.Results: Thirty-six patients (10 males and 26 females) were enrolled. Mean age at diagnosis and observation period were 11.6 ± 2.4 and 8.1 ± 4.4 years, respectively. Seven patients had AKI at onset of SLE. Compared with those without AKI, patients with AKI had significantly higher proportions of pathologically proliferative LN. Only one patient with AKI progressed to ESKD without complete recovery of renal function. Overall and renal survival rates were 100and 97.2%, respectively. There was no significant difference in estimated glomerular filtration rate at the final visit (85ml/min/1.73 m2 in the AKI group vs. 103.2 ml/min/1.73 m2 in the non-AKI group; p = .11).Conclusion: Our study demonstrated favorable renal outcomes in childhood-onset LN with AKI in the near to midterm period. Inducing complete remission may be important for preserving renal function.
    Nov. 2019, Modern rheumatology, 29(6) (6), 970 - 976, English, International magazine
    Scientific journal

  • Tomohiko Yamamura, Kandai Nozu, Shogo Minamikawa, Tomoko Horinouchi, Nana Sakakibara, China Nagano, Yuya Aoto, Shinya Ishiko, Koichi Nakanishi, Yuko Shima, Hiroaki Nagase, Rini Rossanti, Ming J Ye, Yoshimi Nozu, Shingo Ishimori, Naoya Morisada, Hiroshi Kaito, Kazumoto Iijima
    BACKGROUND: Alport syndrome (AS) is a hereditary disease caused by mutations in COL4A3-5 genes. Recently, comprehensive genetic analysis has become the first-line diagnostic tool for AS. However, no reports comparing mutation identification rates between conventional sequencing and comprehensive screening have been published. METHODS: In this study, 441 patients clinically suspected of having AS were divided into two groups and compared. The initial mutational analysis method involved targeted exome sequencing using next-generation sequencing (NGS) (n = 147, NGS group) or Sanger sequencing for COL4A3/COL4A4/COL4A5 (n = 294, Sanger group). RESULTS: In the NGS group, 126 patients (86%) were diagnosed with AS by NGS, while two had pathogenic mutations in other genes, NPHS1 and EYA1. Further, 239 patients (81%) were diagnosed with AS by initial analysis in the Sanger group. Thirteen patients who were negative for mutation detection in the Sanger group were analyzed by NGS; three were diagnosed with AS. Two had mutations in CLCN5 or LAMB2. The final variant detection rate was 90%. DISCUSSION: Our results reveal that Sanger sequencing and targeted exome sequencing have high diagnostic ability. NGS also has the advantage of detecting other inherited kidney diseases and pathogenic mutations missed by Sanger sequencing.
    Sep. 2019, Molecular genetics & genomic medicine, 7(9) (9), e883, English, International magazine
    Scientific journal

  • 石森 真吾, 堀之内 智子, 藤村 順也, 南川 将吾, 山村 智彦, 松野下 夏樹, 神吉 直宙, 小椋 雅夫, 貝藤 裕史, 野津 寛大, 亀井 宏一, 石倉 健司, 飯島 一誠
    (一社)日本小児腎臓病学会, May 2019, 日本小児腎臓病学会雑誌, 32(1Suppl.) (1Suppl.), 100 - 100, Japanese

  • 青砥 悠哉, 野津 寛大, 石河 慎也, 榊原 菜々, 長野 智那, 藤村 順也, 南川 将吾, 山村 智彦, 神吉 直宙, 石森 真吾, 島 友子, 中西 浩一, 吉川 徳茂, 貝藤 裕史, 飯島 一誠
    (一社)日本小児腎臓病学会, May 2019, 日本小児腎臓病学会雑誌, 32(1Suppl.) (1Suppl.), 120 - 120, Japanese

  • Arterial spin labelingが早期診断に有用であったposterior reversible encephalopathy syndromeの一例
    沖田 空, 親里 嘉展, 金川 温子, 平田 量子, 中尻 智史, 橋本 総子, 阪田 美穂, 西山 敦史, 米谷 昌彦, 石森 真吾
    (地独)加古川市民病院機構, Mar. 2019, 加古川市民病院機構学術誌, 8, 33 - 36, Japanese

  • 脳血流SPECTにより潜在性病変を描出できた可逆性脳梁膨大部病変を有する軽症脳炎・脳症の1例
    金川 温子, 親里 嘉展, 中尻 智史, 平田 量子, 橋本 総子, 沖田 空, 阪田 美穂, 西山 敦史, 米谷 昌彦, 永瀬 静香, 石森 真吾
    (地独)加古川市民病院機構, Mar. 2019, 加古川市民病院機構学術誌, 8, 37 - 40, Japanese

  • Ken Saida, Masao Ogura, Yuji Kano, Shingo Ishimori, Takahisa Yoshikawa, Hiroko Nagata, Mai Sato, Koichi Kamei, Kenji Ishikura
    BACKGROUND: Bordetella pertussis infection is a known trigger of atypical hemolytic uremic syndrome (HUS). For patients suspected of having atypical HUS, prompt plasma exchange/infusion (PE/PI) or eculizumab (ECZ) treatment is recommended. CASE PRESENTATION: We report a 1-month-old female infant who was admitted with a severe cough and a B. pertussis-positive sputum culture. She was born at 38 weeks gestation and did not have a family history of renal diseases. Hemophagocytic syndrome was suspected and she was transferred to our hospital 17 days after her initial admission. One day later, she developed acute kidney injury and was diagnosed with HUS triggered by B. pertussis infection. Her plasma complement levels were low and her kidney function continued to worsen over the next few days. However, prior to starting ECZ treatment, her kidney function improved spontaneously; she did not receive PE/PI or ECZ. She was discharged 46 days after her initial hospitalization, without complications. A genetic workup revealed no mutations in CFH, CFI, CFB, C3, MCP, THBD, or DGKE. CONCLUSIONS: This case demonstrates that B. pertussis infection-related HUS may resolve spontaneously. The decision to treat during the acute phase is challenging because B. pertussis often affects infants suspected of having atypical HUS. However, ECZ may not be the first treatment option for patients with B. pertussis infection-related HUS unless they show an indicated genetic abnormality; if ECZ is used, early discontinuation should be considered.
    Dec. 2018, BMC nephrology, 19(1) (1), 365 - 365, English, International magazine
    Scientific journal

  • Natsuki Matsunoshita, Kandai Nozu, Masahide Yoshikane, Azusa Kawaguchi, Naoya Fujita, Naoya Morisada, Shingo Ishimori, Tomohiko Yamamura, Shogo Minamikawa, Tomoko Horinouchi, Keita Nakanishi, Junya Fujimura, Takeshi Ninchoji, Ichiro Morioka, Hiroaki Nagase, Mariko Taniguchi-Ikeda, Hiroshi Kaito, Kazumoto Iijima
    Pseudo-Bartter/Gitelman syndrome (p-BS/GS) encompasses a clinically heterogeneous group of inherited or acquired disorders similar to Bartter syndrome (BS) or Gitelman syndrome (GS), both renal salt-losing tubulopathies. Phenotypic overlap frequently occurs between p-BS/GS and BS/GS, which are difficult to diagnose based on their clinical presentation and require genetic tests for accurate diagnosis. In addition, p-BS/GS can occur as a result of other inherited diseases such as cystic fibrosis, autosomal dominant hypocalcemia, Dent disease, or congenital chloride diarrhea (CCD). However, the detection of the variants in genes other than known BS/GS-causing genes by conventional Sanger sequencing requires substantial time and resources. We studied 27 cases clinically diagnosed with BS/GS, but with negative genetic tests for known BS/GS genes. We conducted targeted sequencing for 22 genes including genes responsible for tubulopathies and other inherited diseases manifesting with p-BS/GS symptoms. We detected the SLC26A3 gene variants responsible for CCD in two patients. In Patient 1, we found the SLC26A3 compound heterozygous variants: c.354delC and c.1008insT. In Patient 2, we identified the compound heterozygous variants: c.877G > A, p.(Glu293Lys), and c.1008insT. Our results suggest that a comprehensive genetic screening system using targeted sequencing is useful for the diagnosis of patients with p-BS/GS with alternative genetic origins.
    Jul. 2018, Journal of human genetics, 63(8) (8), 887 - 892, English, International magazine
    Scientific journal

  • Shingo Ishimori, Shohei Ohyama, Tomoyuki Yokota, Takeshi Morisawa, Masahiko Yonetani
    Jul. 2018, Pediatrics international : official journal of the Japan Pediatric Society, 60(7) (7), 675 - 676, English, International magazine
    Scientific journal

  • B群レンサ球菌性髄膜炎7例の臨床的検討
    中谷 尚子, 西山 敦史, 吉田 阿寿美, 永瀬 静香, 中尻 智史, 平田 量子, 橋本 総子, 石森 真吾, 沖田 空, 阪田 美穂, 佐々木 香織, 親里 嘉展, 白井 丈晶, 米谷 昌彦
    (地独)加古川市民病院機構, Mar. 2018, 加古川市民病院機構学術誌, 7, 40 - 43, Japanese

  • Keita Nakanishi, Kandai Nozu, Ryugo Hiramoto, Shogo Minamikawa, Tomohiko Yamamura, Junya Fujimura, Tomoko Horinouchi, Takeshi Ninchoji, Hiroshi Kaito, Naoya Morisada, Shingo Ishimori, Koichi Nakanishi, Ichiro Morioka, Hiroyuki Awano, Masafumi Matsuo, Kazumoto Iijima
    Lowe syndrome is an X-linked inherited disorder diagnosed by congenital cataracts, intellectual impairment, and renal tubular dysfunction. It is caused by pathogenic variants of the oculocerebrorenal syndrome of Lowe gene (OCRL), of which more than 250 have been reported so far. Around 30 of these variants are intronic nucleotide changes; however, to show the pathogenicity of these variants is usually laborious. In this report, we conducted genetic testing of a patient clinically diagnosed with Lowe syndrome to detect the presence of OCRL variants. We analyzed variant transcript expression in peripheral blood leukocytes and using a minigene construct in addition to in silico analysis. We detected a 9 base pair intronic insertion between OCRL exon 10 and exon 11 derived from the alteration of the splicing acceptor site in intron 10 caused by the intronic splicing variant NM_000276.3: c.940-11G>A (p.Lys313_Val314insAsnSer*). The findings obtained from transcript analysis of peripheral blood leukocytes and the minigene construct assay were identical to those of in silico analysis. All assays detected the same transcript abnormality and were reliable in revealing the pathogenicity of the intronic variant. The in vitro assay can also be used to clarify the complicated splicing mechanisms in inherited kidney diseases.
    Dec. 2017, European journal of medical genetics, 60(12) (12), 631 - 634, English, International magazine
    Scientific journal

  • Kana Yokota, Kandai Nozu, Shogo Minamikawa, Tomohiko Yamamura, Keita Nakanishi, Hisashi Kaneda, Riku Hamada, Yoshimi Nozu, Akemi Shono, Takeshi Ninchoji, Naoya Morisada, Shingo Ishimori, Junya Fujimura, Tomoko Horinouchi, Hiroshi Kaito, Koichi Nakanishi, Ichiro Morioka, Mariko Taniguchi-Ikeda, Kazumoto Iijima
    BACKGROUND: X-linked Alport syndrome (XLAS) is a progressive, hereditary nephropathy. Although males with XLAS usually develop end-stage renal disease before 30 years of age, some men show a milder phenotype and possess somatic mosaic variants of the type IV collagen α5 gene (COL4A5), with severity depending on variant frequencies. In females, somatic mosaic variants are rarely reported in XLAS, and it is not clear what determines severity. METHODS: Two females with somatic mosaic mutations in COL4A5 with variant frequencies of 17.9 and 22.1% were detected using the next-generation sequencing. One patient only had hematuria. The other, however, had moderate proteinuria, which is a severe phenotype for a female XLAS patient of her age. The molecular mechanisms for the severe phenotype were investigated by examining variant frequencies in urinary sediment cells and X chromosome inactivation patterns, and by looking for modifier variants in podocyte-related genes using the next-generation sequencing. RESULTS: The severe phenotype patient had a variant frequency of 36.6% in urinary sediment cells, which is not markedly high, nor did she show skewed X chromosome inactivation. However, she did have the heterozygous variant in COL4A3, which can affect severity. CONCLUSION: Factors determining severity in female XLAS patients remain unclear. One studied patient with the somatic variant in COL4A5 showed a severe phenotype without skewed X chromosome inactivation, which might be derived from digenic variants in COL4A3 and COL4A5. Further studies are required to determine molecular mechanisms behind female XLAS resulting in the severe phenotype.
    Oct. 2017, Clinical and experimental nephrology, 21(5) (5), 877 - 883, English, Domestic magazine
    Scientific journal

  • Takeshi Ninchoji, Kandai Nozu, Keita Nakanishi, Tomoko Horinouchi, Junya Fujimura, Tomohiko Yamamura, Shogo Minamikawa, Shingo Ishimori, Koichi Nakanishi, Norishige Yoshikawa, Ichiro Morioka, Hiroshi Kaito, Kazumoto Iijima
    OBJECTIVES: To clarify the clinical characteristics and long-term outcomes of patients with diarrhea-associated hemolytic uremic syndrome (D + HUS) with a particular focus on time course. METHODS: We retrospectively analyzed the medical records of 61 patients with D + HUS who were admitted to Kobe University Hospital between 1995 and 2015. The onset of D + HUS was defined as day 1 of diarrhea. RESULTS: The age of onset was 4.1 (1.5-13.4) years, and the period between onset and diagnosis of D + HUS was 5 (3-18) days. The platelet count was lowest on day 7 (4-24), and the lactase dehydrogenase level was maximal on day 8 (4-25). Twenty-three patients required dialysis for 13 (2-37) days, starting at day 5-9. Seventeen patients showed central nervous system (CNS) symptoms at day 4-18. They were followed up for 3.7 (0-18.4) years. At the final follow-up, estimated glomerular filtration rate was 113.7 (57.9-159.9) ml/min/1.73 m2 with five patients having chronic kidney disease. Three patients developed CNS sequelae. The time to diagnosis was significantly shorter in the group of patients receiving dialysis than without dialysis (p = 0.018) and in the group with CNS complications than without (p = 0.013). CONCLUSION: CNS complications were often apparent after blood examination results improved. Moreover, a shorter period between the onset of diarrhea and a diagnosis of D + HUS indicated a more severe clinical course or long-term sequelae, and it should be considered as a risk factor for poor prognosis.
    Oct. 2017, Clinical and experimental nephrology, 21(5) (5), 889 - 894, English, Domestic magazine
    Scientific journal

  • 吉村 聡, 大隅 朋生, 清谷 知賀子, 吉田 仁典, 谷口 真紀, 塩田 曜子, 寺島 慶太, 石黒 精, 石森 真吾, 西村 奈穂, 義岡 孝子, 宮嵜 治, 加藤 元博, 富澤 大輔, 松本 公一
    (一社)日本小児血液・がん学会, Jun. 2017, 日本小児血液・がん学会雑誌, 54(2) (2), 138 - 142, Japanese

  • Hiroyuki Kanazawa, Akinari Fukuda, Mai Sato, Shingo Ishimori, Kengo Sasaki, Hajime Uchida, Takanobu Shigeta, Vidyadhar Padmakar Mali, Seisuke Sakamoto, Kenji Ishikura, Mureo Kasahara
    Children with ESRD in need of RRT are commonly managed by PD due to difficulty with vascular access for HD and the relatively large extracorporeal blood volume required. Major abdominal surgery may result in injury to the peritoneum and consequent adhesion, thereby resulting in a reduction in the anatomical capacity and transport capability across the peritoneal membrane. Here, we report successful resumption of PD after LDLT in two pediatric patients. The causes of ESRD were PH1 and juvenile nephronophthisis, respectively. Both patients were managed by PD prior to LDLT. PD was converted to HD starting three days before LDLT and was continued postoperatively until resumption of PD on days 13 and 28, respectively. The PD weekly Kt/V urea was maintained before and after LDLT. The patients continued to do well on PD without complications. Meticulous intra-operative techniques during LDLT allow postoperative PD resumption by preservation of peritoneal integrity with effective transport capability and without added risk of peritonitis.
    May 2017, Pediatric transplantation, 21(3) (3), English, International magazine

  • 藤村 順也, 石森 真吾, 神岡 一郎, 沖田 空, 親里 嘉展, 西山 敦史, 米谷 昌彦
    (一社)日本小児腎臓病学会, Apr. 2017, 日本小児腎臓病学会雑誌, 30(1) (1), 35 - 40, Japanese

  • Tomohiko Yamamura, Naoya Morisada, Kandai Nozu, Shogo Minamikawa, Shingo Ishimori, Daisaku Toyoshima, Takeshi Ninchoji, Masato Yasui, Mariko Taniguchi-Ikeda, Ichiro Morioka, Koichi Nakanishi, Hisahide Nishio, Kazumoto Iijima
    BACKGROUND: Nephronophthisis-related ciliopathies (NPHP-RC) are a frequent cause of renal failure for children and adolescents. Although diagnosing these diseases clinically is difficult, a comprehensive genetic screening approach of targeted resequencing can uncover the genetic background in this complicated family of diseases. METHODS: We studied three Japanese female patients with renal insufficiency from non-consanguineous parents. A renal biopsy for clinical reasons was not performed. Therefore, we did not know the diagnosis of these patients from a clinical aspect. We performed comprehensive genetic analysis using the TruSight One Sequencing Panel next generation sequencing technique. RESULTS: We identified three different rare NPHP-RC variants in the following genes: SDCCAG8, MKKS, and WDR35. Patient 1 with SDCCAG8 homozygous deletions showed no ciliopathy-specific extrarenal manifestations, such as retinitis pigmentosa or polydactyly prior to genetic analysis. Patient 2 with a MKKS splice site homozygous mutation and a subsequent 39-amino acid deletion in the substrate-binding apical domain, had clinical symptoms of Bardet-Biedl syndrome. She and her deceased elder brother had severe renal insufficiency soon after birth. Patient 3 with a compound heterozygous WDR35 mutation had ocular coloboma and intellectual disability. CONCLUSIONS: Our results suggest that a comprehensive genetic screening system using target resequencing is useful and non-invasive for the diagnosis of patients with an unknown cause of pediatric end-stage renal disease.
    Feb. 2017, Clinical and experimental nephrology, 21(1) (1), 136 - 142, English, Domestic magazine
    Scientific journal

  • 中西 啓太, 忍頂寺 毅史, 藤村 順也, 堀之内 智子, 南川 将吾, 山村 智彦, 神吉 直宙, 石森 真吾, 野津 寛大, 森貞 直哉, 飯島 一誠
    (一社)日本小児腎臓病学会, Jun. 2016, 日本小児腎臓病学会雑誌, 29(1Suppl.) (1Suppl.), 118 - 118, Japanese

  • 乳児喘息に伴う急性呼吸不全に対し体外式持続陰圧管理が奏功した1例
    永瀬 静香, 石森 真吾, 上田 太郎, 徳元 翔一, 永井 正志, 金川 温子, 中尻 智史, 松本 享, 沖田 空, 親里 嘉展, 西山 敦史, 米谷 昌彦
    兵庫県小児科医会, Apr. 2015, 兵庫県小児科医会報, (63) (63), 12 - 14, Japanese

  • Akihiro Kuma, Masahito Tamura, Nana Ishimatsu, Tetsu Miyamoto, Ryota Serino, Shingo Ishimori, Naoya Morisada, Kazumoto Iijima, Sohsuke Yamada, Masaaki Takeuchi, Haruhiko Abe, Yutaka Otsuji
    Uromodulin-associated kidney disease (UAKD) is an autosomal dominant disease caused by a mutation in the uromodulin (UMOD) gene, leading to end-stage renal disease. We herein report the case of a family with UAKD caused by a novel mutation (C135G) in the UMOD gene. A 31-year-old woman had a low estimated glomerular filtration rate (59.7 mL/min per 1.73 m(2)). Her father, grandfather and paternal aunt had received maintenance hemodialysis therapy since their 40's. This case underscores the importance of performing genetic testing in young patients even in cases involving only moderate abnormalities in the kidney function.
    2015, Internal medicine (Tokyo, Japan), 54(6) (6), 631 - 5, English, Domestic magazine
    Scientific journal

  • Naoya Morisada, Takashi Sekine, Shingo Ishimori, Masahiko Tsuda, Masao Adachi, Kandai Nozu, Koichi Nakanishi, Ryojiro Tanaka, Kazumoto Iijima
    Microdeletion of 16q12 is a rare chromosomal abnormality. We present the cases of two Japanese patients with developmental and renal symptoms of differing clinical severity. Both patients had 16q12 interstitial microdeletions that included the entire SALL1 gene. Patient 1 was a 15-year-old Japanese boy clinically diagnosed with branchio-oto-renal syndrome with mild developmental delay, but with no imperforate anus or polydactyly. Array comparative genome hybridization (aCGH) indicated a 5.2 Mb deletion in 16q12, which included SALL1. Patient 2 was a 13-year-old Japanese boy diagnosed with Townes-Brocks syndrome and severe developmental delay, epilepsy, and renal insufficiency requiring renal replacement therapy. Fluorescence in situ hybridization indicated deletion of the entire SALL1 gene. Subsequent aCGH showed a 6 Mb deletion in 16q12q13, which included SALL1. Precise analysis of the present two cases will give us some clues to elucidate the pathogenic mechanisms of 16q12 microdeletion syndrome.
    Oct. 2014, Pediatrics international : official journal of the Japan Pediatric Society, 56(5) (5), e75-8, English, International magazine
    Scientific journal

  • Yuya Hashimura, Kandai Nozu, Hiroshi Kaito, Koichi Nakanishi, Xue Jun Fu, Hiromi Ohtsubo, Fusako Hashimoto, Masafumi Oka, Takeshi Ninchoji, Shingo Ishimori, Naoya Morisada, Natsuki Matsunoshita, Naohiro Kamiyoshi, Norishige Yoshikawa, Kazumoto Iijima
    X-linked Alport syndrome is caused by mutations in the COL4A5 gene encoding the type IV collagen α5 chain (α5(IV)). Complete absence of α5(IV) in the renal basal membrane is considered a pathological characteristic in male patients; however, positive α5(IV) staining has been found in over 20% of patients. We retrospectively studied 52 genetically diagnosed male X-linked Alport syndrome patients to evaluate differences in clinical characteristics and renal outcomes between 15 α5(IV)-positive and 37 α5(IV)-negative patients. Thirteen patients in the α5(IV)-positive group had non-truncating mutations consisting of nine missense mutations, three in-frame deletions, and one splice-site mutation resulting in small in-frame deletions of transcripts. The remaining two showed somatic mutations with mosaicism. Missense mutations in the α5(IV)-positive group were more likely to be located before exon 25 compared with missense mutations in the α5(IV)-negative group. Furthermore, urinary protein levels were significantly lower and the age at onset of end-stage renal disease was significantly higher in the positive group than in the negative group. These results help to clarify the milder clinical manifestations and molecular characteristics of male X-linked Alport syndrome patients expressing the α5(IV) chain.
    May 2014, Kidney international, 85(5) (5), 1208 - 13, English, International magazine
    Scientific journal

  • 診断時に急性腎障害を合併した小児全身性エリテマトーデス患者の腎予後に関する検討
    石森 真吾, 貝藤 裕史, 神岡 一郎, 島 友子, 野津 寛大, 濱平 陽史, 中西 浩一, 田中 亮二郎, 吉川 徳茂, 飯島 一誠
    (公社)日本小児科学会, Feb. 2014, 日本小児科学会雑誌, 118(2) (2), 286 - 286, Japanese

  • Koichi Kamei, Masao Ogura, Shingo Ishimori, Hiroshi Kaito, Kazumoto Iijima, Shuichi Ito
    UNLABELLED: Hereditary hypouricemia is a rare disorder characterized by extremely low serum uric acid levels caused by excessive urinary excretion due to an inherited tubular defect in urate handling. Exercise-induced acute kidney injury (AKI) is the main complication of this disorder, though AKI may also be induced by other factors. A 7-month-old boy with hereditary hypouricemia developed AKI associated with severe dehydration caused by rotavirus gastroenteritis. He also showed severe hypernatremia and metabolic acidosis and received continuous renal replacement therapy for 3 days. He showed no signs of hydronephrosis or urolithiasis. However, hypouricemia was noted when his renal function recovered (serum uric acid <0.6 mg/dl). Analysis of the urate transporter 1 gene revealed a homozygous nonsense mutation in exon 4 (c.774G > A, p.W258X). Both parents were heterozygous for the mutation and his younger brother was later determined to have severe hypouricemia (0.6 mg/dl). CONCLUSION: Uric acid is an essential factor for scavenging oxidative stressors. In this patient, severe dehydration may have directly caused pre-renal AKI, but susceptibility to oxidative stressors under severe dehydration, as well as exercise, may also contribute to AKI. Careful attention should be paid to dehydration, especially in young children, to avoid the development of AKI in patients with hereditary hypouricemia.
    Feb. 2014, European journal of pediatrics, 173(2) (2), 247 - 9, English, International magazine
    Scientific journal

  • 濱平 陽史, 稲熊 洋祐, 堀之内 智子, 五百蔵 智明, 久呉 真章, 石森 真吾, 貝藤 裕史, 飯島 一誠
    (一社)日本小児腎臓病学会, Nov. 2013, 日本小児腎臓病学会雑誌, 26(2) (2), 297 - 303, Japanese

  • Shingo Ishimori, Hiroshi Kaito, Shigeo Hara, Koichi Nakanishi, Norishige Yoshikawa, Kazumoto Iijima
    Thin basement membrane nephropathy (TBMN) with heterozygous COL4A3/COL4A4 mutations is considered to be a cause of benign familial hematuria. The disease has been believed to have excellent prognosis and TBMN in early childhood is rarely associated with nephrotic-range proteinuria. Furthermore, the presence of proteinuria in patients with TBMN is associated with autosomal-dominant Alport syndrome, which has poorer prognosis in later life. We present an infant case of nephrotic-range proteinuria associated with TBMN caused by heterozygous COL4A4 mutation. A previously healthy 3-year-old boy developed microhematuria and nephrotic-range proteinuria. Renal pathology simply revealed thinning of the glomerular basement membrane (GBM) and mutational analysis revealed a novel heterozygous mutation in COL4A4. He was treated with lisinopril for 1.5 years, which resolved his proteinuria and hematuria. At the most recent follow-up at 6.5 years of age, urinalysis and kidney function were completely normal, without requiring medication. However, transient but repeated moderate to nephrotic-range proteinuria and microscopic hematuria occurred in association with other illnesses. This case highlights the spectrum of phenotypes that may be apparent in an infant with TBMN. Thinning of the GBM can cause transient nephrotic-range proteinuria, particularly in the early stages of TBMN.
    Nov. 2013, CEN case reports, 2(2) (2), 194 - 196, English, Domestic magazine
    Scientific journal

  • 肉眼的血尿に伴い急性腎障害を呈したIgA腎症の1例
    石森 真吾, 貝藤 裕史, 松野下 夏樹, 橋本 総子, 忍頂寺 毅史, 原 重雄, 吉川 徳茂, 飯島 一誠
    日本小児腎不全学会, Jul. 2013, 日本小児腎不全学会雑誌, 33, 197 - 199, Japanese

  • 濱平 陽史, 堀之内 智子, 藤原 安曇, 早野 克典, 伴 紘文, 上村 裕保, 高見 勇一, 柄川 剛, 高橋 宏暢, 五百蔵 智明, 久呉 真章, 石森 真吾, 貝藤 裕史, 飯島 一誠
    (一社)日本小児腎臓病学会, May 2013, 日本小児腎臓病学会雑誌, 26(1Suppl.) (1Suppl.), 205 - 205, Japanese

  • 忍頂寺 毅史, 貝藤 裕史, 石森 真吾, 松野下 夏樹, 吉川 徳茂, 飯島 一誠
    (一社)日本小児腎臓病学会, May 2013, 日本小児腎臓病学会雑誌, 26(1Suppl.) (1Suppl.), 125 - 125, Japanese

  • 松野下 夏樹, 貝藤 裕史, 石森 真吾, 忍頂寺 毅史, 野津 寛大, 吉川 徳茂, 飯島 一誠
    (一社)日本小児腎臓病学会, May 2013, 日本小児腎臓病学会雑誌, 26(1Suppl.) (1Suppl.), 196 - 196, Japanese

  • Fusako Hashimoto, Shin Nishiumi, Osamu Miyake, Hitomi Takeichi, Mari Chitose, Hiromi Ohtsubo, Shingo Ishimori, Takeshi Ninchoji, Yuya Hashimura, Hiroshi Kaito, Naoya Morisada, Ichiro Morioka, Hideoki Fukuoka, Masaru Yoshida, Kazumoto Iijima
    BACKGROUND: A metabolomic approach using umbilical cord blood from infants at birth has not been studied widely yet. AIM: We examined changes in metabolite levels in umbilical cord blood at birth via gas chromatography/mass spectrometry (GC/MS)-based metabolomics, with the aim of achieving a detailed understanding of fetal stress during labor. STUDY DESIGN: All procedures were reviewed and approved by the Institutional Review Board of Kobe University School of Medicine. This was a cohort study of pregnant women based in Palmore Hospital, which is located in an urban area of Japan, and was carried out between December 2010 and May 2011. SUBJECT: Umbilical cord arterial blood samples were obtained from 41 infants immediately after delivery. OUTCOME MEASURES: Metabolites in the blood samples were measured using GC/MS to investigate whether the delivery method (spontaneous onset of labor, induction of labor or elective cesarean section) affected the metabolite profile in umbilical cord blood. RESULTS: Elective cesarean section without labor led to lower levels of isoleucine, fructose, mannose, glucose, allose, glucuronic acid, inositol and cysteine in comparison with vaginal delivery following spontaneous labor and without medication. CONCLUSION: It is proposed that the stress associated with labor be involved in alterations in the levels of metabolites, particularly saccharides such as glucose, in umbilical cord blood.
    May 2013, Early human development, 89(5) (5), 315 - 20, English, International magazine
    Scientific journal

  • SLC26A3 gene analysis in patients with Bartter and Gitelman syndromes and the clinical characteristics of patients with unidentified mutations.
    Shingo Ishimori, Hiroshi Kaito, Natsuki Matsunoshita, Hiromi Otsubo, Fusako Hashimoto, Takeshi Ninchoji, Kandai Nozu, Naoya Morisada, Kazumoto Iijima
    We analyzed the SLC26A3 gene in patients with a clinical diagnosis of Bartter and Gitelman syndromes in whom genetic diagnoses could not be determined. We also examined the genetic and clinical characteristics of patients for whom genetic proof could not be obtained. The present study included 10 patients. With regard to genetic characteristics, 1 patient harbored a heterozygous mutation in the SLC12A3 gene (c.2573T>A, p.L858H), which was also reported in a previous report. With regard to clinical characteristics, 3 patients had abnormalities that were identified incidentally during medical examinations and other illnesses and 1 patient had polyhydramnios. One case of nephrocalcinosis was also noted. Eight patients were of below average height. Although we analyzed the SLC26A3 gene in these 10 patients, none were found to have pathological mutations. Investigation of the outcomes of these cases showed that examination findings had normalized and medication was no longer necessary for 3 patients, whereas hypokalemia and metabolic alkalosis were observed in another patient only in the presence of acute disease. We concluded that few patients develop illnesses because of SLC26A3 mutations. Other disease-related genes may also be involved. Although hypokalemia and metabolic alkalosis are clinical characteristics of Bartter and Gitelman syndromes, many other conditions also present such symptoms, and thus, differential diagnosis is of paramount importance.
    Apr. 2013, The Kobe journal of medical sciences, 59(2) (2), E36-43, English, Domestic magazine
    Scientific journal

  • 小児特発性ネフローゼ症候群におけるステロイド反応性と蛍光免疫染色所見との関連
    忍頂寺 毅史, 貝藤 裕史, 松野下 夏樹, 石森 真吾, 吉川 徳茂, 飯島 一誠
    (一社)日本腎臓学会, Apr. 2013, 日本腎臓学会誌, 55(3) (3), 429 - 429, Japanese

  • Hiroshi Kaito, Shingo Ishimori, Kandai Nozu, Yuko Shima, Koichi Nakanishi, Norishige Yoshikawa, Kazumoto Iijima
    BACKGROUND/AIMS: Exercise-induced acute renal failure [exercise-induced acute kidney injury (EI-AKI)] is defined as AKI due to heavy anaerobic exercise. Although hypouricemia is known to be a risk factor for the onset of EI-AKI, a direct causal link between EI-AKI and serum uric acid has not been established. This study aimed to analyze urate transporter genes in patients with EI-AKI and its molecular mechanism. METHODS: Genomic DNA and total RNA were isolated from peripheral blood leukocytes of patients with a history of EI-AKI. Mutations were analyzed by PCR and a direct sequencing method. We first analyzed the SLC22A12 gene, and then the SLC2A9 gene if no mutations were found in SLC22A12. RESULTS: Seventeen patients were enrolled in this study and 16 had mutations: 15 in SLC22A12 and 1 in SLC2A9. Fourteen (82.4%) patients showed hypouricemia, and all of the patients with hypouricemia had either homozygous or compound heterozygous mutations in SLC22A12 or SLC2A9, which confirmed that all of them had renal hypouricemia. Two patients had heterozygous mutations of SLC22A12, and they were not accompanied by hypouricemia. One patient was found to have no mutations in SLC22A12 or SLC2A9. CONCLUSION: We were able to determine the genetic background of urate transporter genes in patients with EI-AKI. Decreased function of urate transporters, rather than decreased serum uric acid levels, may be of great importance for the onset of EI-AKI.
    2013, American journal of nephrology, 38(4) (4), 316 - 20, English, International magazine
    Scientific journal

  • 貝藤 裕史, 粟野 宏之, 石森 真吾, 大坪 裕美, 忍頂寺 毅史, 橋本 総子, 橋村 裕也, 森貞 直哉, 飯島 一誠, 福永 淳, 錦織 千佳子
    (一社)日本小児腎臓病学会, Nov. 2012, 日本小児腎臓病学会雑誌, 25(2) (2), 201 - 201, Japanese

  • 石森 真吾, 松野下 夏樹, 橋本 総子, 忍頂寺 毅史, 貝藤 裕史, 飯島 一誠, 原 重雄, 吉川 徳茂
    (一社)日本小児腎臓病学会, Nov. 2012, 日本小児腎臓病学会雑誌, 25(2) (2), 213 - 213, Japanese

  • 石森 真吾, 大坪 裕美, 橋本 総子, 忍頂寺 毅史, 橋村 裕也, 貝藤 裕史, 森貞 直哉, 野津 寛大, 吉川 徳茂, 飯島 一誠
    (一社)日本小児腎臓病学会, May 2012, 日本小児腎臓病学会雑誌, 25(1Suppl.) (1Suppl.), 191 - 191, Japanese

  • 忍頂寺 毅史, 貝藤 裕史, 大坪 裕美, 橋本 総子, 石森 真吾, 森貞 直哉, 吉川 徳茂, 飯島 一誠
    (一社)日本小児腎臓病学会, May 2012, 日本小児腎臓病学会雑誌, 25(1Suppl.) (1Suppl.), 212 - 212, Japanese

  • 橋村 裕也, 野津 寛大, 貝藤 裕史, 橋本 総子, 大坪 裕美, 石森 真吾, 忍頂寺 毅史, 森貞 直哉, 中西 浩一, 吉川 徳茂, 飯島 一誠
    (一社)日本小児腎臓病学会, May 2012, 日本小児腎臓病学会雑誌, 25(1Suppl.) (1Suppl.), 193 - 193, Japanese

  • 石森 真吾, 大坪 裕美, 橋本 総子, 橋村 裕也, 貝藤 裕史, 森貞 直哉, 飯島 一誠, 松尾 雅文, 吉川 徳茂
    (一社)日本小児腎臓病学会, Apr. 2011, 日本小児腎臓病学会雑誌, 24(1) (1), 141 - 142, Japanese

■ MISC
  • 三上 華奈, 石森 真吾, 松浦 想, 岩田 成弘, 黒岡 佑介, 西田 敬弘, 小山 智史, 篠本 匡志, 大西 聡, 服部 有香, 今出 礼, 起塚 庸, 内山 敬達, 窪田 拓生, 南 宏尚
    (一社)日本小児腎臓病学会, May 2021, 日本小児腎臓病学会雑誌, 34(1Suppl.) (1Suppl.), 183 - 183, Japanese

  • 三上 華奈, 石森 真吾, 松浦 想, 岩田 成弘, 黒岡 佑介, 西田 敬弘, 小山 智史, 篠本 匡志, 大西 聡, 服部 有香, 今出 礼, 起塚 庸, 内山 敬達, 窪田 拓生, 南 宏尚
    (一社)日本小児腎臓病学会, May 2021, 日本小児腎臓病学会雑誌, 34(1Suppl.) (1Suppl.), 183 - 183, Japanese

  • 松村英樹, 藤井裕子, 久保敦子, 石森真吾, 芦田明
    (公社)日本小児科学会, 2021, 日本小児科学会雑誌, 125(2) (2), 302 - 302, Japanese, International magazine

  • 石河 慎也, 野津 寛大, 近藤 淳, 永井 貞之, 青砥 悠哉, 榊原 菜々, 長野 智那, 堀之内 智子, 山村 智彦, 石森 真吾, 貝藤 裕史, 田中 亮二郎, 島 友子, 中西 浩一, 吉川 徳茂, 飯島 一誠
    (一社)日本小児腎臓病学会, Dec. 2020, 日本小児腎臓病学会雑誌, 33(1Suppl.) (1Suppl.), 77 - 77, Japanese

  • Proteus mirabilis髄膜炎に多発性脳膿瘍を併発した新生児の一例
    松浦 想, 宇津木 玲奈, 藤永 貴大, 有田 英之, 前野 和重, 大西 聡, 石森 真吾, 起塚 庸, 原田 敦子
    (一社)日本小児神経外科学会, Oct. 2020, 小児の脳神経, 45(3) (3), 303 - 303, Japanese

  • 亀井 宏一, 濱田 陸, 田中 征治, 町田 裕之, 田中 絵里子, 藤永 周一郎, 高橋 匡輝, 北山 浩嗣, 石森 真吾, 庄司 健介, 河合 利尚, 佐古 まゆみ, 石倉 健司
    (一社)日本小児腎臓病学会, May 2017, 日本小児腎臓病学会雑誌, 30(1Suppl.) (1Suppl.), 181 - 181, Japanese

  • 才田 謙, 石森 真吾, 松村 壮史, 好川 貴久, 山本 かずな, 加納 優治, 永田 裕子, 佐藤 舞, 小椋 雅夫, 佐古 まゆみ, 亀井 宏一, 谷口 敦夫, 石倉 健司
    (一社)日本小児腎臓病学会, May 2017, 日本小児腎臓病学会雑誌, 30(1Suppl.) (1Suppl.), 186 - 186, Japanese

  • An infant with hypercalcemia associated with malignant renal tumor: a case report
    久保川育子, 早川晶, 石森真吾, 忍頂寺毅史, 森健, 矢内友子, 久松千恵子, 原重雄, 竹島泰弘, 竹島泰弘, 飯島一誠
    (一社)日本小児救急医学会, Feb. 2017, 日本小児救急医学会雑誌, 16(1) (1), 34 - 38, Japanese
    [Refereed]

  • 好川 貴久, 亀井 宏一, 永田 裕子, 加納 優, 石森 真吾, 才田 謙, 佐藤 舞, 小椋 雅夫, 石倉 健司, 宮嵜 治, 義岡 孝子, 緒方 謙太郎, 森貞 直哉, 飯島 一誠
    (一社)日本小児腎臓病学会, Nov. 2016, 日本小児腎臓病学会雑誌, 29(2) (2), 183 - 184, Japanese

  • 永田 裕子, 佐藤 舞, 好川 貴久, 加納 優治, 石森 真吾, 才田 謙, 小椋 雅夫, 亀井 宏一, 伊藤 秀一, 石倉 健司
    日本小児腎不全学会, Jul. 2016, 日本小児腎不全学会雑誌, 36, 296 - 299, Japanese
    [Refereed]

  • 亀井 宏一, 小椋 雅夫, 石森 真吾, 加納 優治, 好川 貴久, 永田 裕子, 才田 謙, 佐藤 舞, 伊藤 秀一, 石倉 健司
    日本小児腎不全学会, Jul. 2016, 日本小児腎不全学会雑誌, 36, 121 - 126, Japanese
    [Refereed]

  • 石森 真吾, 井上 永介, 好川 貴久, 加納 優治, 永田 裕子, 才田 謙, 佐藤 舞, 小椋 雅夫, 亀井 宏一, 伊藤 秀一, 石倉 健司
    (一社)日本小児腎臓病学会, Jun. 2016, 日本小児腎臓病学会雑誌, 29(1Suppl.) (1Suppl.), 111 - 111, Japanese

  • 石森 真吾, 好川 貴久, 加納 優治, 永田 裕子, 才田 謙, 佐藤 舞, 小椋 雅夫, 亀井 宏一, 伊藤 秀一, 石倉 健司
    (一社)日本小児腎臓病学会, Jun. 2016, 日本小児腎臓病学会雑誌, 29(1Suppl.) (1Suppl.), 112 - 112, Japanese

  • 亀井 宏一, 小椋 雅夫, 石森 真吾, 加納 優治, 好川 貴久, 永田 裕子, 才田 謙, 佐藤 舞, 伊藤 秀一, 石倉 健司
    (一社)日本小児腎臓病学会, Jun. 2016, 日本小児腎臓病学会雑誌, 29(1Suppl.) (1Suppl.), 125 - 125, Japanese

  • 加納 優治, 亀井 宏一, 好川 貴久, 永田 裕子, 石森 真吾, 才田 謙, 佐藤 舞, 小椋 雅夫, 伊藤 秀一, 石倉 健司
    (一社)日本小児腎臓病学会, Jun. 2016, 日本小児腎臓病学会雑誌, 29(1Suppl.) (1Suppl.), 127 - 127, Japanese

  • 腎血管性高血圧の診断 非侵襲的画像検査、血漿レニン活性、腎静脈レニンサンプリングの意義
    才田 謙, 亀井 宏一, 宮嵜 治, 野坂 俊介, 好川 貴久, 加納 優治, 永田 裕子, 石森 真吾, 佐藤 舞, 小椋 雅夫, 伊藤 秀一, 石倉 健司
    日本小児高血圧研究会, Jun. 2016, 日本小児高血圧研究会誌, 13(1) (1), 15 - 16, Japanese
    [Refereed]

  • 遠隔期に腎生検を行った造血幹細胞移植関連血栓性微小血管障害の3例
    石森 真吾, 亀井 宏一, 好川 貴久, 加納 優治, 永田 裕子, 才田 謙, 佐藤 舞, 小椋 雅夫, 松岡 健太郎, 義岡 孝子, 緒方 謙太郎, 伊藤 秀一, 石倉 健司
    (一社)日本腎臓学会, May 2016, 日本腎臓学会誌, 58(3) (3), 309 - 309, Japanese

  • 腹膜透析を導入した精神運動発達障害児の合併症と予後
    亀井 宏一, 石森 真吾, 加納 優治, 好川 貴久, 永田 裕子, 才田 謙, 佐藤 舞, 小椋 雅夫, 石倉 健司
    (一社)日本透析医学会, May 2016, 日本透析医学会雑誌, 49(Suppl.1) (Suppl.1), 684 - 684, Japanese

  • 難治性ネフローゼ症候群患者におけるリツキシマブ投与後のウイルス抗体価の減衰
    加納 優治, 亀井 宏一, 好川 貴久, 永田 裕子, 石森 真吾, 才田 謙, 佐藤 舞, 小椋 雅夫, 伊藤 秀一, 石倉 健司
    (公社)日本小児科学会, Feb. 2016, 日本小児科学会雑誌, 120(2) (2), 239 - 239, Japanese

  • 馬蹄腎に合併した巣状分節性糸球体硬化症の1例
    亀井 宏一, 小宅 泰郎, 石森 真吾, 加納 優治, 好川 貴久, 永田 裕子, 才田 謙, 佐藤 舞, 小椋 雅夫, 石倉 健司
    (公社)日本小児科学会, Feb. 2016, 日本小児科学会雑誌, 120(2) (2), 449 - 449, Japanese

  • Prevention of FSGS Recurrence by a Combination of Pre-transplant Bilateral Nephrectomy, Rituximab and Plasma Exchange:Two Case Reports
    Omega Mellyana, Hisroshi Kaito, Natsuki Matsunoshita, Shingo Ishimori, Takeshi Ninchoji, Norishige Yoshikawa, Kazumoto Iijima
    Aug. 2013, PEDIATRIC NEPHROLOGY, 28(8) (8), 1604 - 1604, English
    Summary international conference

  • ロタウイルス腸炎後に急性腎不全となった遺伝性低尿酸血症の男児例
    亀井 宏一, 岡田 麻理, 宮園 明典, 佐藤 舞, 藤丸 拓也, 小椋 雅夫, 石森 真吾, 貝藤 裕史, 飯島 一誠, 伊藤 秀一
    日本小児腎不全学会, Jul. 2013, 日本小児腎不全学会雑誌, 33, 140 - 142, Japanese
    [Refereed]

  • 神戸こども初期急病センターにおける診療情報提供患者の紹介後の診療状況についての検討
    石橋和人, 石田明人, 梶山瑞隆, 西久代, 片山以登, 児玉真美, 植松女久美, 安井美佳, 尾崎美恵, 竹島泰弘, 森貞直哉, 池田真理子, 中川卓, 久保川育子, 石森真吾
    (一社)日本小児救急医学会, 20 May 2013, 日本小児救急医学会雑誌, 12(2) (2), 238 - 238, Japanese

  • 小児一次急病センターを受診した無熱性けいれんおよびその疑い症例の検討
    森貞直哉, 豊嶋大作, 中川卓, 石森真吾, 久保川育子, 池田真理子, 石橋和人, 梶山瑞隆, 石田明人, 竹島泰弘, 飯島一誠
    (一社)日本小児救急医学会, 20 May 2013, 日本小児救急医学会雑誌, 12(2) (2), 257 - 257, Japanese

  • 神戸こども初期急病センター開設後2年間における生後3ケ月未満の受診患者に関する検討
    久保川育子, 石森真吾, 中川卓, 森貞直哉, 池田真理子, 石橋和人, 梶山瑞隆, 石田明人, 竹島泰弘, 飯島一誠
    (一社)日本小児救急医学会, May 2013, 日本小児救急医学会雑誌, 12(2) (2), 185 - 185, Japanese
    [Refereed]

  • 神戸こども初期急病センターを24時間以内に再受診した症例の検討
    竹島泰弘, 石森真吾, 久保川育子, 中川卓, 池田真理子, 森貞直哉, 石橋和人, 梶山瑞隆, 石田明人, 飯島一誠
    (一社)日本小児救急医学会, May 2013, 日本小児救急医学会雑誌, 12(2) (2), 242 - 242, Japanese
    [Refereed]

  • 当施設で2年間に搬送した腸重積症の32例の検討
    梶山瑞隆, 石田明人, 石橋和人, 西久代, 片山以登, 児玉真美, 植松女久美, 安井美佳, 尾崎美恵, 竹島泰弘, 森貞直哉, 池田真理子, 中川卓, 久保川育子, 石森真吾
    (一社)日本小児救急医学会, May 2013, 日本小児救急医学会雑誌, 12(2) (2), 221 - 221, Japanese
    [Refereed]

  • 哺乳不良・体重増加不良にて発症し著明な高カルシウム血症を呈した悪性腎腫瘍の1乳児例
    久保川育子, 加藤威, 平瀬敏志, 山本暢之, 石森真吾, 忍頂寺毅史, 中川卓, 森貞直哉, 池田真理子, 森健, 矢内友子, 早川晶, 竹島泰弘, 飯島一誠
    (一社)日本小児救急医学会, May 2013, 日本小児救急医学会雑誌, 12(2) (2), 276 - 276, Japanese

  • Clinicopathological characteristics and kidney outcome of childhood-onset lupus nephritis with acute kidney injury: from the multicenter study in Japan
    Shingo Ishimori, Hiroshi Kaito, Hiromi Otsubo, Fusako Hashimoto, Takeshi Ninchoji, Ichiro Kamioka, Yuko Shima, Kiyoshi Hamahira, Koichi Nakanishi, Ryojiro Tanaka, Norishige Yoshikawa, Kazumoto Iijima
    Sep. 2012, PEDIATRIC NEPHROLOGY, 27(9) (9), 1687 - 1688, English
    Summary international conference

  • 当院における小児血液腫瘍疾患に対する骨髄非破壊的前処置を用いた同種造血細胞移植の現状
    大坪裕美, 下竹敦哉, 石森真吾, 久保川育子, 森健, 光田好寛, 早川晶, 竹島泰弘, 松尾雅文
    (公社)日本小児科学会, Dec. 2010, 日本小児科学会雑誌, 114(12) (12), 1940 - 1940, Japanese
    [Refereed]

  • 右腸骨に発症し急性虫垂炎様の症状を呈した急性化膿性骨髄炎の1例
    石森真吾, 大坪裕美, 下竹敦哉, 久保川育子, 森健, 早川晶, 竹島泰弘, 松尾雅文, 大江啓介
    (公社)日本小児科学会, Dec. 2010, 日本小児科学会雑誌, 114(12) (12), 1947 - 1948, Japanese
    [Refereed]

  • 成長ホルモン分泌不全症を合併したGitelman症候群の1例
    石森真吾, 貝藤裕史, 橋村裕也, 粟野宏之, 大坪裕美, 橋本総子, 竹島泰弘, 飯島一誠, 松尾雅文
    (公社)日本小児科学会, Dec. 2010, 日本小児科学会雑誌, 114(12) (12), 1952 - 1952, Japanese
    [Refereed]

  • 経口鉄キレート療法後のRISTにて速やかな生着と造血の回復を認めたDiamond‐Blackfan Anemiaの16歳女児例
    早川晶, 石森真吾, 山本暢之, 忍頂寺毅史, 久保川育子, 森健, 矢内友子, 上村裕保, 住永亮, 竹島泰弘, 松尾雅文
    (一社)日本血液学会-東京事務局, Sep. 2010, 臨床血液, 51(9) (9), 1279 - 1279, Japanese
    [Refereed]

  • 肉眼的血尿にて発症した腎原発悪性リンパ腫の1例
    久保川育子, 石森真吾, 大坪裕美, 下竹敦哉, 豊嶋大作, 光田好寛, 森健, 早川晶, 村蒔基次, 三宅秀明, 藤澤正人, 伊藤智雄, 竹島泰弘, 松尾雅文
    (公社)日本小児科学会, Dec. 2009, 日本小児科学会雑誌, 113(12) (12), 1896 - 1896, Japanese
    [Refereed]

  • FDG‐PET/CT検査を契機に甲状腺浸潤が判明しStage IIIと診断し得た腎原発Diffuse large B‐cell lymphomaの1例
    久保川育子, 石森真吾, 大坪裕美, 下竹敦哉, 豊嶋大作, 光田好寛, 森健, 早川晶, 村蒔基次, 三宅秀明, 藤澤正人, 伊藤智雄, 竹島泰弘, 松尾雅文
    (NPO)日本小児がん学会, Nov. 2009, 日本小児血液学会・日本小児がん学会・日本小児がん看護学会・財団法人がんの子供を守る会公開シンポジウムプログラム・総会号, 46(プログラム・総会号) (プログラム・総会号), 485 - 485, Japanese
    [Refereed]

  • 治療中MLL遺伝子再構成が出現したにもかかわらず長期寛解を維持しているALL男児例での融合遺伝子解析
    森健, 長谷川大一郎, 早川晶, 川崎圭一郎, 下竹敦哉, 大坪裕美, 石森真吾, 豊嶋大作, 久保川育子, 光田好寛, 竹島泰弘, 小阪嘉之, 松尾雅文
    (一社)日本血液学会-東京事務局, Sep. 2009, 臨床血液, 50(9) (9), 1269 - 1269, Japanese
    [Refereed]

  • 小児血液腫瘍疾患診療における血清プロカルシトニン値測定に関する検討
    豊嶋大作, 下竹敦哉, 大坪裕美, 石森真吾, 久保川育子, 光田好寛, 森健, 早川晶, 竹島泰弘, 松尾雅文
    (一社)日本血液学会-東京事務局, Sep. 2009, 臨床血液, 50(9) (9), 1266 - 1266, Japanese
    [Refereed]

■ Lectures, oral presentations, etc.
  • 小児発症の劇症1A型糖尿病に対してSAP療法を導入した１例
    下山茜,今出礼,篠本匡志,永尾宏之,山本和宏,服部有香,大西聡,石森真吾,起塚庸
    第37回近畿小児学会, Mar. 2024, Japanese, 近畿小児学会, 大阪市, Japan

  • 1歳時にネフローゼ症候群を発症し、特徴的な腎組織像を呈した先天性免疫不全症（MIRAGE症候群）の1例
    石森真吾,永尾宏之,山本和宏,篠本匡志,服部有香,大西聡,横田知之,鳴海覚志,起塚庸
    第37回近畿小児科学会, Mar. 2024, Japanese, 近畿小児科学会, 大阪市, Japan

  • レニンアンギオテンシン系に着目した早産、低出生体重児の腎障害進展機序の解明研究
    石森真吾
    令和5年度川野小児医学助成研究成果発表会, Mar. 2024, Japanese, 公益財団法人川野小児医学奨学財団, 東京都, Japan

  • 不器用さが受診の契機になったキアリⅠ型奇形・全脊髄に及ぶ 脊髄空洞症の小児例
    濵本麻希,服部有香,清水東与 ,一瀬綾花 ,原田敦子,大西 聡今出 礼,石森真吾,起塚 庸
    第74回日本小児神経学会近畿地方会, Mar. 2024, Japanese, 日本小児神経学会近畿地方会, 大阪市, Japan

  • Onset mechanisms and prognosis in pediatric patients with IgA nephropathy accompanied by macrohematuria-induced acute kidney injury:a multicenter study
    Ishimori S,Horinouchi T,Yamamura T,Fujimura J,Kamiyoshi N,Kaito H,Tanaka Y,Matsukura H,Shimabukuro W,Shima y,Kawaguchi A,Araki Y,Nakanishi K,Hara S,Nozu K.
    15th Asian Congress of Pediatric Nephrology, Nov. 2023, English, Dubai, United Arab Emirates

  • 当院における小児てんかん患者へのペランパネルの使用経験についてThe clinical study of Perampanel for pediatric epilepsy in our hospital
    服部有香,起塚庸,濱本麻希,大西 聡,今出礼,石森真吾
    第56回日本てんかん学会学術集会, Oct. 2023, Japanese, 日本てんかん学会, 東京都, Japan

  • 眼虚血症候群を合併した，維持腹膜透析の 3 歳男児例
    石森真吾,山本和宏,篠本匡志,大西 聡,服部有香,堀之内智子,上田香織,中西裕子,起塚庸
    第53回日本腎臓学会西部学術大会, Oct. 2023, Japanese, 日本腎臓学会, 岡山市, Japan

  • 1 歳時にネフローゼ症候群を発症し，特徴的な腎組織像を呈した先天性免疫不 全症（MIRAGE 症候群）の 1 例
    石森真吾,篠本匡志,大西聡,服部有香,今出礼,鳴海覚志,吉川徳茂,起塚庸
    第53回日本腎臓学会西部学術大会, Oct. 2023, Japanese, 日本腎臓学会, 岡山市, Japan

  • 乳幼児の転倒転落による頭蓋骨骨折へ寄与する因子の検討
    石森真吾;小野あずさ;和田雄樹;山本和宏;篠本匡志;大西聡;起塚庸;原田敦子
    第36回日本小児救急医学会, Japanese, 日本小児救急医学会, 千葉市, Japan

  • 小児発熱性尿路感染症の急性期治療以外の管理（急性期／遠隔期画像評価、フォローについて）
    石森真吾
    第32回日本小児泌尿器科学会総会・学術集会, Jul. 2023, Japanese, 日本小児泌尿器科学会, 神戸市, Japan

  • SILPEC鉗子を用いた単孔式腹腔鏡下精索静脈瘤手術
    服部健吾, 吉村翔平, 辻恵未;石森真吾;津川二郎;西島栄治
    第32回日本小児泌尿器科学会総会・学術集会, Jul. 2023, Japanese, 日本小児泌尿器科学会, 神戸市, Japan

  • 小児IgA腎症の肉眼的血尿発作に伴う急性腎障害発症に鉄とCD163マクロファージが関与する：多機関共同研究
    石森真吾, 堀之内智子, 山村智彦, 藤村順也, 神吉直宙, 貝藤裕史, 田中百合子, 松倉裕喜, 島袋渡, 島友子, 河口亜津彩, 荒木義則, 中西浩一, 野津寛大
    第58回日本小児腎臓病学会学術集会, Jun. 2023, Japanese, 日本小児腎臓病学会, 高槻市, Japan

  • 小児IgA腎症の肉眼的血尿発作に伴う急性腎障害発症に鉄とマクロファージが関与する：多機関共同研究
    石森真吾, 堀之内智子, 藤村順也, 神吉直宙, 貝藤裕史, 田中百合子, 松倉裕喜, 島袋渡, 島友子, 河口亜津彩, 荒木義則, 中西浩一, 野津寛大
    第66回日本腎臓学会学術総会, Japanese, 日本腎臓学会, 横浜市, Japan

  • 発熱性尿路感染症における急性期一過性腎腫大は膀胱尿管逆流症のリスク因子である：他施設共同コホート研究
    石森真吾;藤村順也;中西啓太;服部健吾;平瀬敏志;松野下夏樹;神吉直宙;起塚庸
    第126回日本小児科学会学術集会, Apr. 2023, Japanese, 日本小児科学会, 東京都, Japan

  • 単純性股関節炎で入院し偶発的に抗リン脂質抗体陽性と判明した幼児例
    藤原知咲,石森真吾,永尾宏之,山本和宏,篠本匡志,服部有香,大西聡,今出礼,起塚庸
    第36回近畿小児科学会, Mar. 2023, Japanese, 近畿小児科学会, 大阪市, Japan

  • 腎機能に伴いＬＴ４製剤調節を要したＰｉｅｒｓｏｎ症候群の一例
    今出礼,陳慶祥,平賀千尋,吉田健一,石森真吾,起塚庸,内山敬達
    第32回臨床内分泌代謝Update(Web), Japanese, 日本内分泌学会, Japan

  • 在宅小児腹膜透析を導入し退院した 2 事例～看護師が行ったケア～
    浦萌々子, 石森真吾, 山本亜希子, 林真矢, 花田崇行, 冨田千絢
    第43回日本小児腎不全学会学術集会, Dec. 2022, Japanese, 日本小児腎不全学会, 東京都, Japan

  • ワクチン同時接種後のアナフィラキシーに対し、原因特定に好塩基球活性化試験 （BAT）が有用だった生後3ヵ月の女児例
    土肥周平, 今出礼, 黒岡佑介, 水戸守真寿, 郷間環, 石森真吾, 榎本真宏, 起塚庸, 内山敬達, 西野昌光, 谷内昇一郎
    第59回日本小児アレルギー学会学術大会, Nov. 2022, Japanese, 日本小児アレルギー学会, 宜野湾市, Japan

  • Temporary renal enlargement in children at the first episode of febrile urinary tract infection is a significant prognostic factor for vesicoureteral reflux
    S.Ishimori, J.Fujimaru, K.Nakanishi, K.Hattori, S.Hirase, N.Matsunoshita, N.Kamiyoshi, Y.Okizuka
    19th Congress of the International Pediatric Nephrology Association, Sep. 2022, English, Congress of the International Pediatric Nephrology, Calgary, Canada

  • 硬性気管支鏡による粘液栓除去が著効した鋳型気管支炎の3歳男児例
    江國 哲, 起塚庸, 山本和宏, 篠本匡志, 大西聡, 石森真吾, 津川二郎
    第35回日本小児救急医学会学術集会, Jul. 2022, Japanese, 日本小児救急医学会, 東京都, Japan

  • 発熱性尿路感染症における急性期⼀過性腎腫⼤は膀 胱尿管逆流症のリスク因⼦である：多施設共同コ ホート研究
    石森真吾, 藤村順也, 中西敬太, 服部健吾, 平瀬敏志, 松野下夏樹, 神吉直宙, 起塚庸
    第31回日本小児泌尿器科学会学術集会, Jul. 2022, Japanese, 日本小児泌尿器科学会, 東京都, Japan

  • ステロイド感受性ネフローゼ症候群初発時にはSwitched memory B細胞の増加を認める
    永井貞之, 堀之内智子, 増田知佳, 北角英晶, 近藤淳, 青砥悠哉, 榊原菜々, 忍頂寺毅史, 藤村順也, 石森真吾, 神吉直宙, 貝藤裕史, 島友子, 飯島一誠, 野津寛大
    第65回日本腎臓学会学術総会, Jun. 2022, Japanese, 日本腎臓学会, 神戸市, Japan

  • 小児Aplastic or twig-like middle cerebral arteryに対して血行再建術を施行した一例
    藤原知咲, 和田雄樹, 川本早希, 福屋章悟, 前野和重, 服部有香, 大西聡, 石森真吾, 起塚庸, 原田敦子
    第50回日本小児神経外科学会, Japanese, 日本小児神経外科学会, 岐阜市, Japan

  • 小児特発性ネフローゼ症候群の合併症 （ステロイド・免疫抑制薬関連以外について）
    佐藤舞, 石森真吾, 永田裕子, 南裕佳, 北角英晶
    第57回日本小児腎臓病学会学術集会, May 2022, Japanese, 日本小児腎臓病学会, 宜野湾市, Japan

  • Unilateral multicystic dysplastic kidney may be linked to intrarenal renin angiotensin system in a young gir
    Shingo Ishimori
    The 57th Annual Meeting of the Japanese Society of Pediatric Nephrology, May 2022, English, American Society of Anesthesiology, Japan

  • 2021年に当院で入院管理を行った小児RSV感染症の特徴
    濱中統親, 石森真吾, 大田尾早紀, 山本和宏, 篠本匡志, 服部有香, 大西聡, 今出礼, 内山敬達, 起塚庸
    第35回近畿小児科学会（Web), Feb. 2022, Japanese, 近畿小児科学会, 大阪市, Japan

  • 乳児期早期に腹膜透析導入に至ったPierson症候群の一例
    小野あずさ, 石森真吾, 山本和宏, 篠本匡志, 服部有香, 大西聡, 今出礼, 内山敬達, 起塚庸, 小松博史
    第35回近畿小児科学会（Web), Feb. 2022, Japanese, 近畿小児科学会, 大阪市, Japan

  • Possible deleterious effect of iron deposition and CD163-positive macrophage in macrohematuria induced acute kidney injury of IgA nephropathy.
    Ishimori S, Kaito H, Tanaka Y, Matsukura H, Imai N, Hara S, Nozu K, Iijima K
    The 18th Japan-Korea-China Pediatric Nephrology Seminar 2021(Online), Feb. 2022, English

  • 各種ワクチン接種時期と再発との因果関係を考えさせられた、小児特発性ネフローゼ症候群の１例
    石森真吾, 山本和宏, 篠本匡志, 服部有香, 大西聡, 今出礼, 内山敬達, 起塚庸
    第35回近畿小児科学会(Web), Feb. 2022, Japanese, 近畿小児科学会, Japan

  • RSV感染病日に着目した、小児RSV感染に対する体外式持続陰圧換気(Continuous negative extrathoracic pressure: CNEP)不成功例の検討
    石森真吾, 山本和宏, 篠本匡志, 大西聡, 服部有香, 今出礼, 起塚庸, 内山敬達, 南宏尚
    第53回日本小児呼吸器学会学術集会, Oct. 2021, Japanese, 日本小児呼吸器学会, 福井市, Japan

  • 小児特発性ネフローゼ症候群全国疫学調査（JP-SHINE study）：インフルエンザウイルスワクチンの有効性とネフローゼ再発への影響
    石森真吾, 安藤高志, 菊永佳織, 寺野千香子, 佐藤舞, 濱崎祐子, 伊藤秀一, 本田雅敬, 石倉健司
    第56回日本小児腎臓病学会学術集会, Jul. 2021, Japanese, 日本小児腎臓病学会, 高知市, Japan

  • 多嚢胞性異形成腎における腎内レニンアンギオテンシン系の関連：パイロットスタディ
    石森真吾, 藤村順也, 堀之内智子, 山村智彦, 榊原菜々, 長野智那, 西田浩輔, 藤岡一路, 忍頂寺毅史, 野津寛大
    第30回日本小児泌尿器学会学術集会, Jul. 2021, Japanese, 日本小児泌尿器学会, 大阪市, Japan

  • 小児RSV感染症に対する体外式持続陰圧換気(Continuous negative extrathoracic pressure: CNEP)の検討
    石森真吾, 篠本匡志, 大西聡, 服部有香, 今出礼, 起塚庸, 南宏尚
    第34回日本小児救急医学会学術集会, Jun. 2021, Japanese, 日本小児救急医学会, 奈良市, Japan

  • 非乏尿性腎不全により血液透析を導入した腎性低尿酸血症の15歳女児例
    黒岡佑介, 石森真吾, 三上華奈, 平場裕美, 高田めぐみ, 小山智史, 篠本匡志, 大西聡, 服部有香, 今出礼, 起塚庸, 内山敬達, 南宏尚
    第57回近畿小児腎臓病研究会(Web), Mar. 2021, Japanese, 日本小児腎臓病学会, Japan

  • Examination Of Relationship Between Multicystic Dysplastic Kidney And Intra-renal Renin-angiotensin System: A Pilot Study Of New Biomarker.
    Ishimori S, Fujimura J, Horinouchi T, Yamamura T, Sakakibara N, Nagano C, Nishida K, Fujioka K, Ninchoji T, Nozu K, Iijima K
    14th Asian Congress of Pediatric Nephrology(Online), Mar. 2021, English, Asian Congress of Pediatric Nephrology

  • 発熱性尿路感染症における急性期一過性腎腫大は再発のリスク因子である
    石森真吾, 藤村順也, 篠本匡志, 大西聡, 服部有香, 服部健吾, 今出礼, 起塚庸, 内山敬達, 米谷昌彦, 南宏尚
    第29回小児泌尿器学会(Web), Jan. 2021, Japanese, 小児泌尿器学会, Japan

  • 入院加療を要した腎損傷8例の検討
    江國哲, 石森真吾, 髙成田祐希, 篠本匡志, 服部健吾, 大西聡, 起塚庸, 久松千恵子, 津川二郎
    第55回小児腎臓病学会(Web), Jan. 2021, Japanese, 小児腎臓病学会, Japan

  • 発熱性尿路感染症における急性期一過性腎腫大は再発のリスク因子である
    石森真吾, 藤村順也, 大西聡, 起塚庸, 内山敬達, 米谷昌彦, 南宏尚
    第55回小児腎臓病学会(Web), Jan. 2021, Japanese, 小児腎臓病学会, Japan

  • Mesangiolysis on renal biopsy in a 1-year-old child: Relationship between pathological findings and clinical course.
    Ishimori S, Fujimura J, Hara S, Nozu K, Iijima K, Yonetani M
    55th Congress of Pediatric Nephrology Society(Online), Jan. 2021, English, Pediatric Nephrology Society

  • Glomerular galactose-deficient IgA1 expression analysis in pediatric patients with glomerular diseases. American Society of Nephrology.
    Ishiko S, Nozu K, Fujimaru R, Shima Y, Kaito H, Tanaka R, Ishimori S, Kondo A, Nagai S, Aoto Y, Sakakibara N, Nagano C, Horinouchi T, Yamamura T, Ninchoji T, Nakanishi K, Yoshikawa N, Iijima K
    Kidney Week 2020(Online), Nov. 2020, English

  • Proteus mirabilis 髄膜炎に多発性脳腫瘍を併発した新生児の一例
    松浦想, 宇津木玲奈, 藤永貴大, 有田英之, 前野和重, 大西聡, 石森真吾, 起塚庸, 原田敦子
    第48回日本小児神経外科学会(Web), Nov. 2020, Japanese, 日本小児神経外科学会, Japan

  • 川崎病既往のない右巨大感動脈瘤血栓閉塞による急性心筋梗塞を呈した一例
    内山敬達, 大西聡, 石森真吾, 起塚庸, 南宏尚
    第40回日本川崎病学会(Web), Oct. 2020, Japanese, 日本川崎病学会, Japan

  • 当院で経験したFPIESの10例
    今出礼, 谷内昇一郎, 松井美樹, 小山智史, 郷間環, 多賀陽子, 榎本真宏, 西野昌光, 石森真吾, 起塚庸
    JSA/WAO Joint Congress 2020（第69回日本アレルギー学会学術大会）(Web), Sep. 2020, Japanese, 日本アレルギー学会, Japan

  • 鉄に着目した、IgA腎症患者の肉眼的血尿発作時における急性腎障害発症メカニズムに関する組織学的検討
    石森真吾, 貝藤裕史, 田中百合子, 松倉裕喜, 今井直史, 原重雄, 野津寛大, 飯島一誠
    第63回日本腎臓学会(Web), Jun. 2020, Japanese, 日本腎臓学会, Japan

  • 膿胸を契機に診断に至ったIgA欠損症の8歳男児例
    平場裕美, 石森真吾, 土肥周平, 藤崎拓也, 髙成田祐希, 篠本匡志, 大西聡, 服部健吾, 起塚庸,久松千恵子, 津川二郎, 内山敬達, 南宏尚
    第123回日本小児科学会学術集会(Web), Apr. 2020, Japanese, 日本小児科学会, Japan

  • メチシリン耐性Staphylococcus lugdunensisによるUro-sepsisに至った新生児例
    近藤淳, 石森真吾, 大西聡, 起塚庸
    第54回日本小児腎臓病学会, Nov. 2019, Japanese, 日本小児腎臓病学会, 大阪市, Japan

  • 乳幼児後天性声門下腔嚢胞の4例
    小野あずさ, 起塚庸, 石森真吾, 内山敬達, 髙成田祐希, 服部健吾, 久松千恵子, 津川二郎, 西島栄治, 南宏尚
    第52回日本小児呼吸器学会, Nov. 2019, Japanese, 日本小児呼吸器学会, 鹿児島市, Japan

  • 難治性気管支喘息として加療されていたびまん性汎細気管支炎（DPB）の14歳男児例
    小山智史, 石森真吾, 大西聡, 起塚庸, 内山敬達, 南宏尚
    第52回日本小児呼吸器学会, Nov. 2019, Japanese, 日本小児呼吸器学会, 鹿児島市, Japan

  • エピペン?を誤注射し高血圧を呈した2例の検討
    小山智史, 谷内昇一郎, 石森真吾, 起塚庸, 内山敬達, 南宏尚
    第56回日本小児アレルギー学会, Nov. 2019, Japanese, 日本小児アレルギー学会, 千葉市, Japan

  • 小児RSV感染症に対する体外式持続陰圧換気（Continuous negative extrathoracic pressure: CNEP）の検討
    石森真吾, 大西聡, 起塚庸, 内山敬達, 南宏尚
    第52回日本小児呼吸器学会, Nov. 2019, Japanese, 日本小児呼吸器学会, 鹿児島市, Japan

  • Prospective examination of relationship between clinical features and relapse of nephrotic syndrome after flu vaccines.
    Ishimori S, Horinouchi T, Fujimura J, Minamikawa S, Yamamura T, Matsunoshita N, Kamiyoshi N, Ogura M, Kaito H, Nozu K, Kamei K, Ishikura K, Iijima K
    IPNA 2019, Oct. 2019, English, International Pediatric Nephrology Association, Venice, Italy

  • 偶発的に認めた頭蓋骨腫瘤性病変からMcCune-Albright症候群を疑った12歳男児例
    土肥周平, 宇津木玲奈, 大西聡, 石森真吾, 起塚庸, 伊倉義弘, 玉置知子, 原田敦子
    第66回日本小児神経学会近畿地方会, Oct. 2019, Japanese, 日本小児神経学会近畿地方会, 大阪市, Japan

  • 当院における2年間の小児熱傷136例の検討
    小野あずさ, 起塚庸, 石森真吾, 橋倉尚美, 久保田美幸, 芝田祐子, 井本明奈, 内山敬達, 南宏尚
    第11回日本子ども虐待医学会, Jul. 2019, Japanese, 日本子ども虐待医学会, 函館市, Japan

  • 生後1か月時に拡張型心筋症に伴うショックにより末期腎不全に至り, 持続血液透析導入後に腹膜透析に移行した1例
    松井美樹, 石森真吾, 大西聡, 起塚庸
    第41回日本小児腎不全学会, Jun. 2019, Japanese, 日本小児腎不全学会, 高知市, Japan

  • 異なる社会的対応を行った両側頭頂骨骨折の2乳児例
    小山智史, 起塚庸, 山根弘美, 大西聡, 石森真吾, 内山敬達, 谷内昇一郎, 南宏尚, 木本優希, 原田敦子, 宇都宮英綱
    第55回日本小児放射線学会, Jun. 2019, Japanese, 日本小児放射線学会, 神戸市, Japan

  • 小児特発性ネフローゼ症候群全国疫学調査（JP-SHINE study):インフルエンザウイルスワクチンによる再発現象効果
    石森真吾, 石倉健司, 佐藤舞, 菊永香織, 寺野千香子, 濱崎祐子, 安藤高志, 伊藤秀一, 本田雅敬
    第62回日本腎臓学会, Jun. 2019, Japanese, 日本腎臓学会, 名古屋市, Japan

  • 小児特発性ネフローゼ症候群におけるインフルエンザウイルスワクチン接種とネフローゼ病勢との関連：多施設共同研究
    石森真吾, 堀之内智子, 藤村順也, 南川将吾, 山村智彦, 松野下夏樹, 神吉直宙, 小椋雅夫, 貝藤裕史, 野津寛大, 亀井宏一, 石倉健司, 飯島一誠
    第54回日本小児腎臓病学会, Jun. 2019, Japanese, 日本小児腎臓病学会, 大阪市, Japan

  • 当院で経験したFPIESの4例
    仲宗根瑠花, 谷内昇一郎, 石森真吾, 大西聡, 内山敬達, 起塚庸, 榎本真宏, 西野昌光, 南宏尚
    第32回近畿小児科学会, Mar. 2019, Japanese, 近畿小児科学会, 京都市, Japan

  • 二次性血球貪食性リンパ組織球症に至ったが自然軽快したヒトパレコウイルス感染症の1か月女児例
    西田敬弘, 石森真吾, 中田恵子, 近藤淳, 谷口由記, 大西聡, 起塚庸, 内山敬達, 谷内昇一郎, 南宏尚
    第32回近畿小児科学会, Mar. 2019, Japanese, 近畿小児科学会, 京都市, Japan

  • 乳幼児後天性声門下腔嚢胞の3例
    小野あずさ, 近藤淳, 起塚庸, 石森真吾, 内山敬達, 津川二郎, 西島栄治, 南宏尚
    第32回近畿小児科学会, Mar. 2019, Japanese, 近畿小児科学会, 京都市, Japan

  • 皮膚型から全身型結節性多発動脈炎へ移行したと考えられる9歳女児例
    近藤淳, 谷内昇一郎, 石森真吾, 大西聡, 起塚庸, 内山敬逹, 南宏尚
    第32回近畿小児科学会, Mar. 2019, Japanese, 近畿小児科学会, 京都市, Japan

  • Heiner症候群が疑われた1例
    近藤淳, 谷内昇一郎, 石森真吾, 大西聡, 起塚庸, 内山敬逹, 南宏尚
    第32回近畿小児科学会, Mar. 2019, Japanese, 近畿小児科学会, 京都市, Japan

  • 頭部外傷に伴う左内頸動脈・攣縮によって右顔面神経・右不全麻痺を来した10歳女児の1例
    西田敬弘, 原田敦子, 木本優希, 宇都宮英綱, 大西聡, 起塚庸, 石森真吾, 内山敬逹, 谷内昇一郎, 南宏尚
    第32回近畿小児科学会, Mar. 2019, Japanese, 近畿小児科学会, 京都市, Japan

  • 小児RSV感染症に対する体外式持続陰圧換気（Continuous negative extrathoracic pressure: CNEP)の検討
    石森真吾, 大西聡, 起塚庸, 内山敬達, 南宏尚
    第32回近畿小児科学会, Mar. 2019, Japanese, 近畿小児科学会, 京都市, Japan

  • MRIによって診断したS状静脈洞溝に沿って進展する小児後頭蓋窩硬膜外血腫の7例
    近藤淳, 起塚庸, 石森真吾, 内山敬達, 福屋章悟, 原田敦子, 阪本大輔, 宇都宮英綱, 南宏尚
    第46回日本集中治療医学会学術集会, Mar. 2019, Japanese, 日本集中治療医学会, 京都市, Japan

  • 夜尿症の精査中に発見された、低形成腎による慢性腎臓病の1例
    石森真吾, 北角英晶, 増田知佳, 城戸拓海, 本郷裕斗, 藤村順也, 松本知徳, 金川温子, 平田 量子, 中尻智史, 橋本総子, 沖田空, 阪田美穂, 親里嘉展, 西山敦史, 米谷昌彦
    第40回日本小児腎不全学会学術集会, Nov. 2018, Japanese, 日本小児腎不全学会, 宮崎市, Japan

  • インフルエンザB感染を契機に可逆性脳梁膨大部病変を有する軽症脳炎脳症を発症し、その後小脳炎を合併した1例
    増田知佳, 北角英晶, 石森真吾, 親里嘉展, 西山敦史, 米谷昌彦
    第50回日本小児感染症学会総会・学術集会, Nov. 2018, Japanese, 日本小児感染症学会, 福岡市, Japan

  • ヒトメタニューモウイルス感染後に高サイトカイン血症を合併したと考えられた2例
    北角英晶, 増田知佳, 石森真吾, 親里嘉展, 西山敦史, 米谷昌彦
    第50回日本小児感染症学会総会・学術集会, Nov. 2018, Japanese, 日本小児感染症学会, 福岡市, Japan

  • 在宅呼吸器の保存データ解析が設定の評価や治療効果の確認に有用であった非侵襲的陽圧換気療法施行中の小児2例
    小寺孝幸, 吉田阿寿美, 城戸拓海, 本郷裕斗, 中尻智史, 平田量子, 橋本総子, 石森真吾, 沖田空, 阪田美穂, 森川悟, 佐藤有美, 親里嘉展, 西山敦史, 森沢猛, 米谷昌彦
    第55回日本小児アレルギー学会学術集会, Oct. 2018, Japanese, 日本小児アレルギー学会, 岡山市, Japan

  • 当院で経験したFPIESの4例
    仲宗根瑠花, 谷内昇一郎, 石森真吾, 大西聡, 起塚庸, 内山敬逹, 榎本真宏, 西野昌光, 南宏尚
    第55回日本小児アレルギー学会学術集会, Oct. 2018, Japanese, 日本小児アレルギー学会, 岡山市, Japan

  • 在宅呼吸器の保存データ解析が設定の評価や治療効果の確認に有用であった非侵襲的陽圧換気療法施行中の小児2例
    小寺孝幸, 吉田阿寿美, 城戸拓海, 本郷裕斗, 中尻智史, 平田量子, 橋本総子, 石森真吾, 沖田空, 阪田美穂, 森川悟, 佐藤有美, 親里嘉展, 西山敦史, 森沢猛, 米谷昌彦
    第51回日本小児呼吸器学会, Sep. 2018, Japanese, 日本小児呼吸器学会, 札幌市, Japan

  • 非典型的なMRI所見であるも臨床的にPRESが疑われ、一過性脳血流低下を証明し得た1例
    石森真吾, 北角英晶, 増田知佳, 城戸拓海, 本郷裕斗, 藤村順也, 松本和徳, 金川温子, 平田量子, 中尻智史, 橋本総子, 沖田空, 阪田美穂, 親里嘉展, 西山敦史, 米谷昌彦
    第25回日本小児高血圧研究会学術集会, Sep. 2018, Japanese, 日本小児高血圧研究会, 名古屋市, Japan

  • 内服誘発試験が診断に有用であったトスフロキサシンによるアナフィラキシーの4歳女児例
    橋木総子, 平田量子, 吉田阿寿美, 中谷尚子, 永瀬静香, 中尻智史, 石森真吾, 沖田空, 坂田美穂, 佐々木香織, 親里嘉展, 西山敦史, 白井丈晶, 米谷昌彦
    第67回日本アレルギー学会学術集会, Jun. 2018, Japanese, 日本アレルギー学会, 千葉市, Japan

  • ステロイド加療により腎結石生成を助長したと考えられた全身型若年性特発性関節炎の1例
    北角英晶, 石森真吾, 吉田阿寿美, 中谷尚子, 永瀬静香, 中尻智史, 平田量子, 橋本総子, 沖田空, 阪田美穂, 佐々木香織, 親里嘉展, 西山敦史, 白井丈晶, 米谷昌彦
    第53回日本小児腎臓病学会学術集会, Jun. 2018, Japanese, 日本小児腎臓病学会, 福島市, Japan

  • 小児発熱性尿路感染症例の腎超音波所見による急性期腎長径の検討
    石森真吾, 吉田阿寿美, 永瀬静香, 中谷尚子, 平田量子, 中尻智史, 橋本総子, 沖田空, 阪田美穂, 佐々木香織, 親里嘉展, 西山敦史, 白井丈晶, 米谷昌彦
    第53回日本小児腎臓病学会学術集会, Jun. 2018, Japanese, 日本小児腎臓病学会, 福島市, Japan

  • 胆汁鬱滞が遷延した重症川崎病の乳児例
    石森真吾
    第274回小児科学会兵庫県地方会, May 2018, Japanese, 小児科学会兵庫県地方会, 神戸市, Japan

  • 尿路結石による排尿時の啼泣を主訴に発見されたadenine phosphoribosyl transferase欠損症の1例
    吉田阿寿美, 石森真吾, 榊原尚子, 永瀬静香, 平田量子, 中尻智史, 橋本総子, 阪田美穂, 佐々木香織, 谷中好子, 親里嘉展, 西山敦史, 白井丈晶, 岩出珠幾, 安福正男, 米谷昌彦
    第121回日本小児科学会学術集会, Apr. 2018, Japanese, 日本小児科学会, 福岡市, Japan

  • 頻拍を主症状としたてんかん発作を認めた結節性硬化症の一例
    阪田美穂, 親里嘉展, 白井丈晶, 佐藤有美, 吉田阿寿美, 中谷尚子, 永瀬静香, 中尻智史, 平田量子, 橋本総子, 石森真吾, 佐々木香織, 谷中好子, 西山敦史, 米谷昌彦, 吉田葉子, 鈴木嗣敏
    第121回日本小児科学会学術集会, Apr. 2018, Japanese, 日本小児科学会, 福岡市, Japan

  • 小児特発性ネフローゼ症候群全国疫学調査（JP-SHINE study）
    佐藤舞, 石倉健司, 寺野千香子, 菊永佳織, 小牧文代, 石森真吾, 濱崎祐子, 安藤高志, 藤秀一, 本田雅敬
    第121回日本小児科学会学術集会, Apr. 2018, Japanese, 日本小児科学会, 福岡市, Japan

  • A case of pathological mesangiolysis on renal biopsy in a 1-year-old child: Investigation of relationship between pathological findings and clinical course in infant age.
    Shingo Ishimori
    16th Korea-China-Japan Pediatric Nephrology Seminar 2018, Apr. 2018, English, Busan, Korea, Republic of

  • 努力呼吸を呈する小児急性呼吸器疾患に対する体外式持続陰圧療法の短期的効果：前方視的検討
    石森真吾, 永瀬静香, 吉田阿寿美, 榊原尚子, 平田量子, 中尻智史, 橋本総子, 阪田美穂, 佐々木香織, 谷中好子, 親里嘉展, 西山敦史, 白井丈晶, 米谷昌彦
    第31回近畿小児科学会, Mar. 2018, Japanese, 近畿小児科学会, 大阪市, Japan

  • Infantile spasmsにケトン食が奏効したミトコンドリアDNA枯渇症候群の1例
    中尻智史, 吉田阿寿美, 榊原尚子, 永瀬静香, 平田量子, 橋本総子, 石森真吾, 阪田美穂, 佐々木香織, 谷中好子, 親里嘉展, 西山敦史, 白井丈晶, 米谷昌彦, 池田真理子
    第51回日本てんかん学会, Nov. 2017, Japanese, 日本てんかん学会, 京都市, Japan

  • 努力呼吸を呈する小児急性呼吸器疾患に対する体外式持続陰圧療法の短期的効果：前方視的検討
    石森真吾, 永瀬静香, 吉田阿寿美, 榊原尚子, 平田量子, 中尻智史, 橋本総子, 阪田美穂, 佐々木香織, 谷中好子, 親里嘉展, 西山敦史, 白井丈晶, 米谷昌彦
    第50回日本小児呼吸器学会学術集会, Nov. 2017, Japanese, 日本小児呼吸器学会, 東京都, Japan

  • 鉄欠乏性貧血による摂食障害を合併した乳児消化管アレルギーの1例
    橋本総子, 吉田阿寿美, 永瀬静香, 中尻智史, 平田量子, 石森真吾, 阪田美穂, 佐々木香織, 谷中好子, 親里嘉展, 西山敦史, 白井丈晶, 米谷昌彦
    第54回日本アレルギー学会学術集会, Nov. 2017, Japanese, 日本アレルギー学会, 宇都宮市, Japan

  • 越婢加朮湯の術前投与が有効であった腹部リンパ管腫の1例
    安福正男, 河原仁守, 福井慶介, 久野克也, 岩出珠幾, 先浜大, 石森真吾, 佐々木香織, 米谷昌彦
    第33回日本小児外科学会秋季シンポジウム, Oct. 2017, Japanese, 日本小児外科学会, 川崎市, Japan

  • マイコプラズマ感染を契機にクリーゼを来たした重症筋無力症の1女児例
    中尻智史, 永瀬静香, 橋本総子, 石森真吾, 阪田美穂, 佐々木香織, 谷中好子, 親里嘉展, 西山敦史, 白井丈晶, 米谷昌彦
    第22回神経感染症学会総会学術大会, Oct. 2017, Japanese, 神経感染症学会, 北九州市, Japan

  • Examination of clinical relationship between relapse of nephrotic syndrome, influenza virus vaccine, and influenza virus infection in children: a nationwide survey in Japan (JP-SHINE study).
    Ishimori S, Ishikura K, Sato M, Kikunaga K, Terano C, Komaki F, Hamasaki Y, Ando T, Ito S, Honda M
    13th Asian Congress of Pediatric Nephrology, Oct. 2017, English, Asian Congress of Pediatric Nephrology, Kuala Lumpur, Malaysia

  • 尿路結石による排尿時の啼泣を主訴に発見されたadenine phosphoribosyl transferase欠損症の1例
    吉田阿寿美, 石森真吾, 榊原尚子, 永瀬静香, 平田量子, 中尻智史, 橋本総子, 阪田美穂, 佐々木香織, 谷中好子, 親里嘉展, 西山敦史, 白井丈晶, 岩出珠幾, 安福正男, 米谷昌彦
    第272回日本小児科学会兵庫県地方会, Sep. 2017, Japanese, 日本小児科学会兵庫県地方会, 姫路市, Japan

  • 当院におけるベッドサイドでの喉頭気管気管支鏡検査
    小寺孝幸, 永瀬静香, 中尻智史, 石森真吾, 佐藤有美, 森川悟, 佐々木香織, 谷中好子, 親里嘉展, 西山敦史, 森沢猛, 米谷昌彦
    第272回日本小児科学会兵庫県地方会, Sep. 2017, Japanese, 日本小児科学会兵庫県地方会, 姫路市, Japan

  • 腎代替療法導入にあたり, 成人科への移行時期を考えさせられたJoubert症候群の1例
    石森真吾, 親里嘉展, 西山敦史, 米谷昌彦
    第39回日本小児腎不全学会学術集会, Sep. 2017, Japanese, 日本小児腎不全学会, 淡路市, Japan

  • 胎児期に血栓性微小血管症を発症し, 胎児水腫を呈したと考えられた1例
    石森真吾, 大山正平, 大西徳子, 横田知之, 森川悟, 森沢猛, 吉田瑶子, 加藤秀, 宮田敏行, 南学正臣, 米谷昌彦
    第52回日本小児腎臓病学会学術集会, Jun. 2017, Japanese, 日本小児腎臓病学会, 東京都, Japan

  • リツキシマブ療法を施行した難治性ネフローゼ症候群患者におけるインフルエンザワクチンの有効性と安全性
    亀井宏一, 濱田陸, 田中征治, 町田裕之, 田中絵里子, 藤永周一郎, 高橋匡輝, 北山浩嗣, 石森真吾, 庄司健介, 河合利尚, 佐古まゆみ, 石倉健司
    第52回日本小児腎臓病学会学術集会, Jun. 2017, Japanese, 日本小児腎臓病学会, 東京都, Japan

  • 尿沈渣所見を契機にLesch-Nyhan症候群と診断した1歳男児例
    才田謙, 石森真吾, 松村壮史, 好川貴久, 山本かずな, 加納優治, 永田裕子, 佐藤舞, 小椋雅夫, 佐古まゆみ, 亀井宏一, 谷口敦夫, 石倉健司
    第52回日本小児腎臓病学会学術集会, Jun. 2017, Japanese, 日本小児腎臓病学会, 東京都, Japan

  • 水腎症コホート研究：中間報告～中核病院で行うべき臨床研究～
    石森真吾
    第271回日本小児科学会兵庫県地方会, May 2017, Japanese, 日本小児科学会兵庫県地方会, 神戸市, Japan

  • 低蛋白血症・電解質異常をきたし入院した重症アトピー性皮膚炎の乳児例
    谷中好子, 米谷昌彦, 白井丈晶, 西山敦史, 親里嘉展, 佐々木香織, 阪田美穂, 石森真吾, 橋本総子, 中尻智史, 永瀬静香, 吉田阿寿美
    第271回日本小児科学会兵庫県地方会, May 2017, Japanese, 日本小児科学会兵庫県地方会, 神戸市, Japan

  • 胎児水腫で出生し, 生直後より血栓性微小血管症を呈した1例
    石森真吾, 大山正平, 大西徳子, 横田知之, 森川悟, 森沢猛, 吉田瑶子, 加藤秀樹, 宮田敏行, 米谷昌彦
    第120回日本小児科学会学術集会, Apr. 2017, Japanese, 日本小児科学会, 東京都, Japan

■ Research Themes
  • レニンアンギオテンシン系に着目した早産、低出生体重児の腎障害進展機序の解明研究
    石森 真吾, 堀之内 智子, 野津 寛大
    日本学術振興会, 科学研究費助成事業, 基盤研究(C), 社会医療法人愛仁会高槻病院(臨床研究センター), 01 Apr. 2023 - 31 Mar. 2026

  • The genetical mechanism of chronic kidney disease in congenital anomalies of kidney and urinary tract, focused on renal renin-angiotensin system
    石森 真吾
    Japan Society for the Promotion of Science, Grants-in-Aid for Scientific Research Grant-in-Aid for Early-Career Scientists, Grant-in-Aid for Early-Career Scientists, Kobe University, 01 Apr. 2020 - 31 Mar. 2023
    先天性腎尿路異常（片腎、水腎症、馬蹄腎、多嚢胞性異形成腎、重複腎盂）、並びに健常児の尿中アンギオテンシノーゲン濃度を測定した。その結果、健常児と比較して多嚢胞性異形成腎群で尿中アンギオテンシノーゲン濃度が有意に高値であった。さらに片腎群と比較しても多嚢胞性異形成腎群で尿中アンギオテンシノーゲン濃度が有意に高値であった。一方で循環レニン・アンギオテンシン系の評価項目である血中レニン活性・アンギオテンシン濃度については、多嚢胞性異形成腎群と片腎群において差はなかった。多嚢胞性異形成腎の病態に局所レニン・アンギオテンシン系が関連するのかについて、多嚢胞性異形成腎残存例と自然消失例の尿中アンギオテンシノーゲン濃度の比較を検討していく予定である。さらに片腎、水腎症、馬蹄腎、多嚢胞性異形成腎、重複腎盂は希少疾患であることから症例数が少なく、検体収集に難渋している。参加施設を追加kして検討していく予定である。

  • Shingo Ishimori, Iijima Kazumoto
    Japan Society for the Promotion of Science, Grants-in-Aid for Scientific Research Grant-in-Aid for Young Scientists (B), Grant-in-Aid for Young Scientists (B), Kobe University, 01 Apr. 2016 - 31 Mar. 2019
    The level of urinary Angiotensinogen between in Hydronephrosis and control group were no statistical difference. Compared with control and Hydronephrosis group, urinary Angiotensinogen level in multiple cystic dysplastic kidney group was significantly higher.

  • 2021年日本小児感染症学会 研究プロジェクト助成金（第16回研究奨励賞）

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