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理解与补体调节异常相关的肾小球疾病谱。

Making sense of the spectrum of glomerular disease associated with complement dysregulation.

作者信息

Johnson Sally Ann, Wong Edwin K S, Taylor C Mark

机构信息

Paediatric Nephrology, Great North Children's Hospital, Newcastle Upon Tyne, UK,

出版信息

Pediatr Nephrol. 2014 Oct;29(10):1883-94. doi: 10.1007/s00467-013-2559-8. Epub 2013 Jul 14.

Abstract

Over recent years, complement has emerged as a major player in the development of a number of glomerular diseases, including atypical haemolytic uraemic syndrome, membranoproliferative glomerulonephritis and the recently described C3 glomerulonephritis. Some patients and pedigrees show overlapping features of these conditions. Intriguingly, a few complement gene mutations are common to different disease phenotypes. In this review, we explore the evidence for complement dysregulation in these diseases and the clinical interface between them, and present a hypothesis to explain the variable phenotype associated with dysregulation of the alternative complement pathway.

摘要

近年来,补体已成为包括非典型溶血尿毒综合征、膜增生性肾小球肾炎和最近描述的C3肾小球肾炎在内的多种肾小球疾病发展过程中的主要参与者。一些患者和家系表现出这些病症的重叠特征。有趣的是,一些补体基因突变在不同疾病表型中是常见的。在本综述中,我们探讨了这些疾病中补体调节异常的证据以及它们之间的临床关联,并提出一个假说来解释与替代补体途径调节异常相关的可变表型。

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