Clinical characteristics and genetic backgrounds of Japanese patients with atypical hemolytic uremic syndrome

• DOI: 10.1007/s10157-018-1549-3
• Publication Date: 2018-03-06T03:56:56Z
• Authors: Madoka Fujisawa; Hideki Kato; Yoko Yoshida; Tomoko Usui; Munenori Takata; Mika Fujimoto; Hideo Wada; Yumiko Uchida; Koichi Kokame; Masanori Matsumoto; Yoshihiro Fujimura; Toshiyuki Miyata; Masaomi Nangaku
• Keywords: Eculizumab; Nephrology; Thrombotic microangiopathy

Atypical hemolytic uremic syndrome (aHUS) is caused by complement overactivation, and its presentation prognosis differ according to the underlying molecular defects. The aim of this study was characterize genetic backgrounds aHUS patients in Japan elucidate associations between their backgrounds, clinical findings, outcomes.We conducted a nationwide epidemiological survey clinically diagnosed examined 118 enrolled from 1998 2016 Japan. We screened variants seven genes related coagulation, as well positivity for anti-CFH antibodies, assessed manifestations, laboratory course.The most frequent abnormalities were C3 (31%) frequency CFH relatively low (10%) compared Western countries. predominant variant cohort p.I1157T (23%), which favorable outcomes despite relapses. A total 72% received plasma therapy, while 42% treated with eculizumab. Japanese favorable, mortality rate 5.4% renal 15%.The common occurrence genotype C3, especially characteristic that differed those Caucasian patients. In addition, unique indicates understanding characteristics individual gene alterations important predicting determining therapeutic strategies aHUS.