Establishment of the diagnostic system of patients with atypical hemolytic uremic syndrome, and analysis of the characteristics of aHUS patients in Japan

2014 Fiscal Year Final Research Report

• Project/Area Number: 25860685
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Kidney internal medicine
• Research Institution: The University of Tokyo (2014); Nara Medical University (2013)
• Principal Investigator: YOSHIDA Yoko 東京大学, 医学部附属病院, 特任研究員 (90649443)
• 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)
• Project Period (FY): 2013-04-01 – 2015-03-31
• Keywords: aHUS / 補体 / Factor H / C3

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.

Free Research Field

血栓止血学