Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome
Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome
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DOI：
10.1182/blood-2008-01-133702
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发表时间：
2008-12-15
期刊：
影响因子：
20.3
通讯作者：
Atkinson, John P.
中科院分区：
文献类型：
--
作者：
Fremeaux-Bacchi, Veronique;Miller, Elizabeth C.;Atkinson, John P.
非典型溶血性尿毒综合征（阿胡斯）是一种补体失调性疾病。在大约50%的患者中，在编码补体调节因子H、MCP和因子I或激活因子B的基因中描述了突变。我们在此报告了与阿胡斯相关的补体级联反应中心成分C3的突变。我们描述了14例血清C3水平持续较低的阿胡斯患者的9种新型C3突变。我们已经证明，这些突变中有5个是功能获得性的，2个是失活的。这确立了C3作为阿胡斯的易感因子。（血。2008; 112：4948-4952）
Atypical hemolytic uremic syndrome (aHUS) is a disease of complement dysregulation. In approximately 50% of patients, mutations have been described in the genes encoding the complement regulators factor H, MCP, and factor I or the activator factor B. We report here mutations in the central component of the complement cascade, C3, in association with aHUS. We describe 9 novel C3 mutations in 14 aHUS patients with a persistently low serum C3 level. We have demonstrated that 5 of these mutations are gain-of-function and 2 are inactivating. This establishes C3 as a susceptibility factor for aHUS. (Blood. 2008; 112: 4948-4952)