Factor H gene variants in Japanese: Its relation to atypical hemolytic uremic syndrome

Mukai, Saki; Hidaka, Yoshihiko; Hirota-Kawadobora, Masako; Matsuda, Kazuyuki; Fujihara, Noriko; Takezawa, Yuka; Kubota, Shiro; Koike, Kenichi; Honda, Takayuki; Yamauchi, Kazuyoshi

doi:10.1016/j.molimm.2011.07.017

Cited by 8 publications

(3 citation statements)

References 31 publications

(23 reference statements)

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“…In 2008, Mukai et al reported the predisposing mutation of CFH in a 1-year-old female aHUS patient by using both hemolytic assay and genetic analysis [69]. Further study was performed by Fujimura et al, who have studied Japanese patients with TMA by measuring ADAMTS13 activity since 1998.…”

Section: Current Studies For the Patients With Ahus In Japanmentioning

confidence: 99%

Atypical hemolytic uremic syndrome

2017

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Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy (TMA) characterized by microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. Most cases of aHUS are caused by uncontrolled complement activation due to genetic mutations in the alternative pathway of complement. More recently, mutations in the gene of coagulation system have also been identified in patients with aHUS. In Japan, the recent studies of aHUS have identified the unique genetic characteristics in our country and enabled us to revise the diagnostic criteria. In this article, we review the classification of TMAs and describe the pathophysiology, diagnosis, and management of aHUS. We also highlight current progress in clinical and basic research of the patients with aHUS in Japan.

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Section: Current Studies For the Patients With Ahus In Japanmentioning

confidence: 99%

Atypical hemolytic uremic syndrome

2017

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“…Patients with aHUS have also been reported in Japan [3], and a series of cases prompted the Japanese Society of Nephrology and the Japan Pediatric Society to jointly develop the aHUS diagnostic criteria in 2013 [4,5]. These criteria broadly defined aHUS as a TMA condition unrelated to STEC-HUS or TTP; thus, the definition included aHUS with complement regulation abnormality and TMA with coexisting diseases (secondary TMA; also called other TMA).…”

Section: Introductionmentioning

confidence: 99%

Clinical guides for atypical hemolytic uremic syndrome in Japan

et al. 2016

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Atypical hemolytic uremic syndrome (aHUS) is a rare disease characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. In 2013, we developed diagnostic criteria to enable early diagnosis and timely initiation of appropriate treatment for aHUS. Recent clinical and molecular findings have resulted in several proposed classifications and definitions of thrombotic microangiopathy and aHUS. Based on recent advances in this field and the emerging international consensus to exclude secondary TMAs from the definition of aHUS, we have redefined aHUS and proposed diagnostic algorithms, differential diagnosis, and therapeutic strategies for aHUS.

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“…Patients with aHUS have also been reported in Japan, and a series of cases prompted the Japanese Society of Nephrology and the Japan Pediatric Society to jointly develop the aHUS diagnostic criteria in 2013 . These criteria broadly defined aHUS as a TMA condition unrelated to STEC‐HUS or TTP; thus, the definition included aHUS with complement regulation abnormality and TMA with coexisting diseases (secondary TMA; also called other TMA).…”

mentioning

confidence: 99%