Establishment of the diagnostic system of patients with atypical hemolytic uremic syndrome, and analysis of the characteristics of aHUS patients in Japan
| Project/Area Number |
25860685
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Kidney internal medicine
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| Research Institution | The University of Tokyo (2014)
Nara Medical University (2013) |
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Principal Investigator |
YOSHIDA Yoko 東京大学, 医学部附属病院, 特任研究員 (90649443)
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| Research Collaborator |
FUJIMURA Yoshihiro 奈良県立医科大学, 輸血部, 名誉教授 (80118033)
MATSUMOTO Masanori 奈良県立医科大学, 輸血部, 教授 (60316081)
MIYATA Toshiyuki 国立循環器病研究センター研究所, 脳血管内科, シニア研究員 (90183970)
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| Project Period (FY) |
2013-04-01 – 2015-03-31
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| Project Status |
Completed (Fiscal Year 2014)
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| Budget Amount *help |
¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
Fiscal Year 2014: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2013: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
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| Keywords | aHUS / 補体 / Factor H / C3 / 非典型溶血性尿毒症症候群 / 微小血管障害症 / 第二経路 / H因子 / atypical HUS / Factor H自己抗体 |
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| Outline of Final Research Achievements |
In this study, we aimed to establish the diagnostic system of aHUS patients in Japan and analyze the characteristics of these patients. Through this work, we identified one-hundred three aHUS patients. Among 71 aHUS patients in Japan, 24% (17/71) had severe (>50%) hemolysis, and 12 of 17 patients had the CFH-related abnormalities. Twenty-one patients had C3-p.I1157T mutations, which was a high-frequency mutation in our aHUS cohort. Most interestingly, a geographical distribution of gene mutations of aHUS patients showed that the patients carrying the C3-p.I1157T mutation were only found in an extremely restricted area (Kansai district including Mie, Nara, Kyoto, and Osaka) and not found in other areas of West Japan. These results will be able to contribute to the early diagnosis and treatment of aHUS patients in Japan.
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Report
(3 results)
Research Products
(26 results)
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[Journal Article] Eculizumab in the treatment of atypical hemolytic uremic syndrome in an infant leads to cessation of peritoneal dialysis and improvement of severe hypertension.2015
Author(s)
Ohta T, Urayama K, Tada Y, Furue T, Imai S, Matsubara K, Ono H, Sakano T, Jinno K, Yoshida Y, Miyata T, Fujimura Y.
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Journal Title
Pediatr Nephrol.
Volume: 30
Issue: 4
Pages: 603-608
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Analysis of patients with atypical hemolytic uremic syndrome treated at the Mie University Hospital: Concentration of C3 p.I1157T mutation.2014
Author(s)
Matsumoto T, Fan X, Ishikawa E, Ito M, Amano K, Toyoda H, Komada Y, Ohishi K, Katayama N, Yoshida Y, Matsumoto M, Fujimura Y, Ikejiri M, Wada H, Miyata T.
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Journal Title
Int J Hematol.
Volume: 100
Issue: 5
Pages: 437-442
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Diagnostic criteria for atypical hemolytic uremic syndrome proposed by the Joint Committee of the Japanese Society of Nephrology and the Japan Pediatric Society.2014
Author(s)
Sawai T, Nangaku M, Ashida A, Fujimaru R, Hataya H, Hidaka Y, Kaname S, Okada H, Sato W, Yasuda T, Yoshida Y, Fujimura Y, Hattori M, Kagami S.
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Journal Title
Clin Exp Nephrol.
Volume: 18
Issue: 1
Pages: 4-9
DOI
Related Report
Peer Reviewed
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