Division of Hematology/Oncology, Pennsylvania State University, Milton S. Hershey Medical Center, Hershey, Pennsylvania 17033, USA.
Kidney Int. 2010 Feb;77(4):267-9. doi: 10.1038/ki.2009.467.
Complement factor I (CFI) mutations are implicated in the pathogenesis of atypical hemolytic uremic syndrome (aHUS). Nevertheless, there is evidence that CFI deficiency is a weak effector of aHUS. Bienaime et al. report that homozygous deletion of CFHR-1 in the RCA gene cluster of chromosome 1q is a major risk factor for poor outcome for patients with CFI mutations. The basic and clinical implications of the findings are further elaborated here.
补体因子 I(CFI)突变与非典型溶血尿毒综合征(aHUS)的发病机制有关。然而,有证据表明 CFI 缺乏是 aHUS 的一个较弱效应物。Bienaime 等人报告称,染色体 1q 上 RCA 基因簇中 CFHR-1 的纯合缺失是 CFI 突变患者不良预后的主要危险因素。本文进一步阐述了这些发现的基础和临床意义。