遗传性局灶性节段性肾小球硬化症的研究进展

Recent advances of hereditary focal segmental glomerulosclerosis

摘要: 局灶性节段性肾小球硬化症（focal segmental glomerulosclerosis，FSGS）是肾病综合征最常见的病理类型之一，是由多种途径单独或共同导致的足细胞损伤引起。目前已知的儿童单基因遗传性FSGS至少有10个，分别因ACTN4、TRPC6、CD2AP、APOL1、INF2、MYO1E、PAX2、ANLN、CRB2和LMX1B基因突变所致。其他一些遗传性肾小球疾病和遗传性肾小管间质疾病，肾脏病理也可以为FSGS。本文就遗传性FSGS的致病基因、临床表型及治疗等方面进行了综述。

Abstract: Focal segmental glomerulosclerosis (FSGS) is one of the most common pathological type of nephrotic syndrome. It is caused by podocyte injury from many factors. There are at least 10 single gene diseases of FSGS due to mutations in ACTN4, TRPC6, CD2AP, APOL1, INF2, MYO1E, PAX2, ANLN, CRB2 and LMX1B. FSGS is also present in some hereditary glomerular diseases and tubulo-interstitial diseases. The review summarized the genes, phenotypes and treatments of FSGS.