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Faculty of Medicine School of Medicine Department of Developmental and Urological-Reproductive Medicine, Pediatrics |
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Associate Professor |
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Related SDGs |
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KONOMOTO Takao
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Research Areas 【 display / non-display 】
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Life Science / Embryonic medicine and pediatrics
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Life Science / Nephrology
Papers 【 display / non-display 】
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Re-evaluating the MYH9 p.I1816V variant in a patient with atypical clinical presentation Reviewed
Konomoto T., Wakamatsu F., Sakaguchi H., Kurogi J., Tanaka E., Moritake H.
Pediatric Nephrology 41 ( 4 ) 993 - 997 2026.4
Authorship：Lead author, Corresponding author Language：English Publishing type：Research paper (scientific journal) Publisher：Pediatric Nephrology
MYH9-related disease (MYH9-RD) is an autosomal dominant disorder typically characterized by macrothrombocytopenia, leukocyte inclusion bodies, and variable non-hematologic manifestations such as hearing loss and nephropathy. We herein describe a 16-year-old boy presenting with persistent proteinuria and biopsy-proven membranous nephropathy with focal segmental sclerosis. Genetic testing identified a rare MYH9 variant (p.I1816V), previously reported in association with Epstein syndrome. However, the patient had normal platelet counts, no leukocyte inclusions, and no abnormalities in non-muscle myosin heavy chain IIA (NMMHC-IIA) expression in neutrophils or podocytes. Although globally rare, the p.I1816V variant is more frequent in East Asian populations and is predicted to be benign by multiple in silico tools. This case illustrates the challenges of interpreting rare variants in the absence of supportive clinical findings and highlights the need for cautious evaluation in the era of next-generation sequencing.
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Kidney pathological findings of MYH9-related disease: a cross-sectional nationwide survey in Japan Reviewed
Nakatani R., Miura K., Shirai Y., Ohtsuka Y., Ohwada Y., Konomoto T., Morohashi T., Tsugawa K., Taneda S., Honda K., Kunishima S., Ishikura K., Hattori M.
Pediatric Nephrology 40 ( 10 ) 3201 - 3209 2025.10
Language：English Publishing type：Research paper (scientific journal) Publisher：Pediatric Nephrology
Background: MYH9-related disease (MYH9-RD) is characterized by macrothrombocytopenia, hearing loss, and progressive kidney dysfunction. Due to thrombocytopenia, kidney biopsy is seldom performed, and pathological findings remain unclear. Although case reports have described focal segmental glomerulosclerosis (FSGS) and glomerular basement membrane (GBM) abnormalities like Alport syndrome, no cross-sectional studies of MYH9-RD have been performed. This study aimed to clarify kidney pathological findings through a nationwide survey. Methods: We conducted a nationwide survey of MYH9-RD patients and collected tissues from kidney biopsies, along with immunofluorescence and electron microscopy images. Multiple pathologists examined all samples. Results: Nine kidney biopsy samples were included. Mesangial matrix expansion was observed in all samples (100%), while FSGS was observed in two (22%). Segmental foot process effacement was observed in all samples (100%), with irregularly aggregated podocyte dense material in seven (78%). Immunofluorescence analysis revealed that three samples (33%) had immunoglobulin and/or complement deposition: the types of depositions varied among patients. Electron dense deposits (EDD) were found in five samples (56%). GBM abnormalities – thinning, irregular thickening, and splitting of the lamina densa – were observed in five samples (56%), but no basket-weave appearance was noted. Endothelial cell swelling was found in seven samples (78%). Conclusions: Mesangial expansion and segmental foot process effacement were commonly observed in MYH9-RD patients. Additional findings included immunoglobulin and complement deposition with EDD, and GBM abnormalities. Although patients may have had relatively severe disease, which limits generalizability, these results provide valuable insights into the disease mechanisms and potential therapeutic targets of MYH9-RD.
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Wakamatsu Fumito, Kurogi Jun, Ebihara Shusei, Sakaguchi Hiromi, Nagasawa Shun, Nakagawa Midori, Yamada Ai, Tanaka Etsuko, Kinoshita Mariko, Konomoto Takao, Moritake Hiroshi
Japanese journal of pediatric nephrology 38 ( 0 ) n/a 2025
Authorship：Corresponding author Language：Japanese Publishing type：Case report Publisher：The Japanese Society for Pediatric Nephrology
Sinusoidal obstruction syndrome (SOS) is a serious complication of hematopoietic stem cell transplantation, characterized by diuretic-resistant edema and weight gain. Severe cases can progress to multiple organ failure due to abdominal compartment syndrome, and the mortality rate remains high even with defibrotide, a known effective treatment for SOS.We present a case of severe SOS in a patient who was treated with extracorporeal ultrafiltration (ECUM) as part of continuous renal replacement therapy (CRRT). The patient received defibrotide immediately upon diagnosis of SOS following peripheral hematopoietic stem cell transplantation; however, he subsequently developed severe ascites and respiratory distress. Initiation of ECUM led to rapid improvement in fluid overload, including ascites, along with increased urine output. The patient was successfully weaned off ECUM within a short period, and his SOS symptoms improved. This case suggests that ECUM may effectively alleviate ascites related to SOS.Effective management of fluid overload is critical in the treatment of SOS. Regardless of renal function, close monitoring of fluid volume using percentage fluid overload (%FO) is essential, and CRRT should be initiated promptly based on the patient’s clinical status. ECUM may serve as an effective treatment option for managing SOS-related fluid overload.
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腎代替療法を継続できなかった重症心身障碍児 Reviewed
波種 真希, 黒木 純, 阪口 嘉美, 田中 悦子, 此元 隆雄, 盛武 浩
日本小児PD・HD研究会雑誌 35 98 - 101 2024.11
Language：Japanese Publishing type：Research paper (scientific journal)
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Nakatani S., Kawano H., Sato M., Hoshino J., Nishio S., Miura K., Sekine A., Suwabe T., Hidaka S., Kataoka H., Ishikawa E., Shimazu K., Uchiyama K., Fujimaru T., Moriyama T., Kurashige M., Shimabukuro W., Hattanda F., Kimura T., Ushio Y., Manabe S., Watanabe H., Mitobe M., Seta K., Shimada Y., Kai H., Katayama K., Ichikawa D., Hayashi H., Hanaoka K., Mochizuki T., Nakanishi K., Tsuchiya K., Horie S., Isaka Y., Muto S., Yodoshi T., Inomata Y., Kubota T., Okajima H., Inui A., Maruyama K., Kise T., Miyazono A., Konomoto T., Shiona S., Nakazato H., Kaku Y., Nishiyama K., Ota T., Shima Y., Ishikawa T., Kamiyoshi N., Kaito H., Nozu K., Yoshikawa T., Nishida M., Fujimaru R., Sawai T., Matsukuma E., Fujita N., Goto Y., Yamamoto M., Kitayama H., Inaba A., Yanagihara T., Hamada R., Hamasaki Y., Kawamura K., Hiramoto R., Akioka Y., Fujinaga S., Kano Y., Daisuke O., Tamura H., Sugawara N., Hiroshi T., Nagaoka Y., Wada T., Yamada T., Otsuka T., Tanaka S., Makabe S., Endo A.
Clinical and Experimental Nephrology 28 ( 10 ) 1004 - 1015 2024.10
Language：English Publishing type：Research paper (scientific journal) Publisher：Clinical and Experimental Nephrology
Background: Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are major genetic polycystic kidney diseases that can progress to end-stage kidney disease (ESKD). Longitudinal data on the clinical characteristics associated with clinical outcomes in polycystic kidney disease (PKD), including the development of ESKD and cardiovascular disease (CVD) are lacking in Japan. To address this unmet need the authors are establishing a novel, web-based, Nationwide Cohort Registry Study—the Japanese Registry of PKD (JRP). Methods: The JRP is a prospective cohort study for ADPKD (aim to recruit n = 1000 patients), and both a retrospective and prospective study for ARPKD (aim to recruit n = 100). In the prospective registry, patients will be followed-up for 10 years every 6 months and 12 months for patients with ADPKD and ARPKD, respectively. Data collection will be recorded on Research Electronic Data Capture (REDCap) starting on April 1, 2024, with recruitment ending on March 31, 2029. (jRCT 1030230618). Results: Data to be collected include: baseline data, demographics, diagnostic and genetic information, radiological and laboratory findings, and therapeutic interventions. During follow-up, clinical events such as development of ESKD, hospitalization, occurrence of extra kidney complications including CVD events, and death will be recorded, as well as patient-reported health-related quality of life for patients with ADPKD. Conclusions: The JRP is the first nationwide registry study for patients with ADPKD and ARPKD in Japan, providing researchers with opportunities to advance knowledge and treatments for ADPKD and ARPKD, and to inform disease management and future clinical practice.
Books 【 display / non-display 】
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【小児疾患診療のための病態生理2 改訂第6版】腎・泌尿器疾患 蛋白尿
黒木純、此元隆雄（ Role： Joint editor）
東京医学社 2022.1
Language：Japanese Book type：Scholarly book
MISC 【 display / non-display 】
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【小児疾患診療のための病態生理2 改訂第6版】腎・泌尿器疾患 蛋白尿
黒木 純、此元隆雄
小児内科 53 ( 増刊 ) 2022.1
Authorship：Corresponding author Language：Japanese Publishing type：Article, review, commentary, editorial, etc. (trade magazine, newspaper, online media)
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【尿細管間質障害-最新の知見】電解質異常・代謝性疾患に伴う尿細管間質障害 アミノ酸代謝異常 Invited
此元隆雄
腎と透析 87 ( 2 ) 303 - 307 2019.8
Authorship：Lead author Language：Japanese Publishing type：Article, review, commentary, editorial, etc. (trade magazine, newspaper, online media)
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Essential points from Evidence-based Clinical Practice Guidelines for Chronic Kidney Disease 2018
Okada H., Yasuda Y., Kashihara N., Asahi K., Ito T., Kaname S., Kanda E., Kanno Y., Shikata K., Shibagaki Y., Tsuchiya K., Tsuruya K., Nagata D., Narita I., Nangaku M., Hattori M., Hamano T., Fujimoto S., Moriyama T., Yamagata K., Yamamoto R., Wakasugi M., Ashida A., Usui J., Kawamura K., Kitamura K., Konta T., Suzuki Y., Tsuruoka S., Nishio S., Hamano T., Fujii N., Fujii H., Wada T., Yokoyama H., Aoki K., Akiyama D., Araki S., Arima H., Ishikawa E., Ishikura K., Ishizuka K., Ishimoto T., Ishimoto Y., Iseki K., Itabashi M., Ichioka S., Ichikawa K., Ichikawa D., Inoue S., Imai T., Imamura H., Iwata Y., Iwazu Y., Usui T., Uchida K., Egawa M., Ohara S., Omori N., Okada R., Okuda Y., Ozeki T., Obata Y., Kai H., Kato N., Kanasaki K., Kaneko Y., Kabasawa H., Kawaguchi T., Kawasaki Y., Kawashima K., Kawano H., Kikuchi K., Kihara M., Kimura Y., Kurita N., Koike K., Koizumi M., Kojima C., Goto S., Konomoto T., Kohagura K., Komatsu H., Komaba H., Saito C., Sakai Y., Sakaguchi Y., Satonaka H., Jimi K., Shimizu A., Shimizu S., Shirai S., Shinzawa M., Sugiyama K., Suzuki T., Suzuki H., Suyama K., Segawa H., Takahashi K., Tanaka K.
Clinical and Experimental Nephrology 23 ( 1 ) 2019.1
Language：Japanese Publishing type：Article, review, commentary, editorial, etc. (bulletin of university, research institution) Publisher：Clinical and Experimental Nephrology
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浮腫・ネフローゼ状態への輸液(Q&A/特集)
此元隆雄
わかる輸液-体液の生理を知り、正しい輸液オーダーができる!- 4 ( 3 ) 683 - 689 2014.7
Language：Japanese Publishing type：Article, review, commentary, editorial, etc. (trade magazine, newspaper, online media) Publisher：総合医学社
Presentations 【 display / non-display 】
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Epstein症候群の腎病理所見の検討
中谷 諒, 三浦 健一郎, 白井 陽子, 大塚 泰史, 大和田 葉子, 西山 慶, 此元 隆雄, 諸橋 環, 石倉 健司, 服部 元史
第67回日本腎臓学会学術集会 2024.6.28
Event date： 2024.6.28 - 2024.6.30
Language：Japanese Presentation type：Oral presentation (general)
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PFAPA症候群に腎炎を合併し、両側扁桃摘出術のみで尿所見が軽快した女児例
阪口 嘉美, 黒木 純, 西村 豊樹, 田中 悦子, 此元 隆雄, 盛武 浩
第59回日本小児腎臓病学会学術集会 2024.6.8
Event date： 2024.6.7 - 2024.6.8
Language：Japanese Presentation type：Oral presentation (general)
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Epstein症候群の腎病理所見の検討
中谷 諒, 三浦 健一郎, 白井 陽子, 大塚 泰史, 大和田 葉子, 此元 隆雄, 諸橋 環, 津川 浩二, 石倉 健司, 服部 元史
第59回日本小児腎臓病学会学術集会 2024.6.7
Event date： 2024.6.7 - 2024.6.8
Language：Japanese Presentation type：Oral presentation (general)
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顔面肩甲上腕型筋ジストロフィー(FSHD)と口顔指症候群1型(OFD1)を合併した女児例
黒木 純, 前田 謙一, 阪口 嘉美, 田中 悦子, 此元 隆雄, 盛武 浩
第59回日本小児腎臓病学会学術集会 2024.6.7
Event date： 2024.6.7 - 2024.6.8
Language：Japanese Presentation type：Oral presentation (general)
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HLA適合度の高いドナーから二次脳死腎移植が可能だった小児例
末松 真弥, 西山 慶, 加来 啓三, 岡部 安博, 田中 悦子, 此元 隆雄, 大賀 正一
第57回日本臨床腎移植学会 2024.2.14
Event date： 2024.2.14 - 2024.2.16
Language：Japanese Presentation type：Oral presentation (general)
Grant-in-Aid for Scientific Research 【 display / non-display 】
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尿中ボウマン嚢上皮細胞mRNAによる糸球体腎炎の非侵襲的バイオマーカーの確立
Grant number：17K10147 2017.05 - 2019.03
科学研究費補助金 基盤研究(C)
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インターロイキン17Eの糸球体上皮細胞シグナル伝達障害による蛋白尿発症機序の解明
Grant number：21790998 2009.04 - 2011.03
科学研究費補助金 若手研究(B)
Authorship：Principal investigator
ヒト培養ポドサイトを用いてインターロイキン17Eの糸球体上皮細胞シグナル伝達障害による蛋白尿発症機序の解明する。