Clinical Manifestation of Patients With Atypical Hemolytic Uremic Syndrome With the C3 p.I1157T Variation in the Kinki Region of Japan.

doi:10.1177/1076029618771750

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Article

Clinical Manifestation of Patients With Atypical Hemolytic Uremic Syndrome With the C3 p.I1157T Variation in the Kinki Region of Japan.

Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis - 1 Nov 2018

Matsumoto Takeshi, Toyoda Hidemi, Amano Keishirou, Hirayama Masahiro, Ishikawa Eiji, Fujimoto Mika, Ito Masaaki, Ohishi Kohshi, Katayama Naoyuki, Yoshida Yoko, Matsumoto Masanori, Kawamura Naohisa, Ikejiri Makoto, Kawakami Keiki, Miyata Toshiyuki, Wada Hideo

Abstract excerpt

The gain-of-function variation p.I1157T in C3 was previously identified in 8 patients with atypical hemolytic uremic syndrome (aHUS) at Mie University Hospital. In the present study, we identified another 11 patients with aHUS with this variation, including 10 pediatric patients (onset age: 1-16 years). The variation seems to be geographically concentrated around Mie Prefecture in Japan. Fifteen of the 19...

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PMID: 29695177
DOI: 10.1177/1076029618771750
PMCID: PMC6714784

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