家族性局灶节段性肾小球硬化症：inverted formin 2基因突变酷似Alport综合征。

Familial focal segmental glomerulosclerosis: mutation in inverted formin 2 mimicking Alport syndrome.

作者信息

Rood I M, Bongers E M H F, Lugtenberg D, Klein I H H T, Steenbergen E J, Wetzels J F M, Deegens J K J

机构信息

Department of Nephrology, Radboud University Medical Centre, Nijmegen.

出版信息

Neth J Med. 2016 Feb;74(2):82-5.

PMID:26951353

Abstract

Focal segmental glomerulosclerosis (FSGS) is one of the most common patterns of glomerular injury. FSGS can be caused by mutations in genes encoding proteins that play key roles in the function of the podocyte and glomerular basement membrane. In this case report we present a family with FSGS initially suspected to be Alport syndrome. Genetic analysis according to the Dutch guidelines of FSGS revealed a mutation in INF2.

摘要

局灶节段性肾小球硬化（FSGS）是最常见的肾小球损伤模式之一。FSGS可能由编码在足细胞和肾小球基底膜功能中起关键作用的蛋白质的基因突变引起。在本病例报告中，我们展示了一个最初被怀疑患有Alport综合征的FSGS家族。根据荷兰FSGS指南进行的基因分析显示INF2存在突变。