Alport综合征研究进展

摘要

Alport syndrome is a rare genetic disorder of specialized basement membranes in the kidney,ear,and eye.Eighty percent of patients have X-linked disease caused by mutations in the COL4A5 gene;autosomal forms of the other Alport syndrome are caused by mutations in COI4A3 and COL4A4 genes.These mutations result in progressive irregular thickening,thinning,and splitting of the GBM,leading to end stage renal failure.During the past two decades,research into this rare disease has focused on the effects of mutations in collagen type Ⅳ α chains and the role of changes in podocytes and the glomerular basement membrane that lead to early kidney fibrosis.In this review,we discuss the latest basic and clinical research on Alport syndrome,focusing on the roles of podocyte pathology and the extracellular matrix.%Alport综合征是一种罕见的以肾、耳及眼部特定基底膜损伤为特征的遗传性疾病.80％的患者为COL4A5基因突变引起的X-连锁显性遗传疾病,其余为COL4A3和COL4A4基因突变导致的常染色体隐性或显性遗传疾病,上述基因突变导致了肾小球基底膜进行性不规则增厚、变薄及分裂,从而导致终末期肾衰竭.在过去20年中,对Alport综合征的研究多集中在Ⅳ型胶原α链的突变、导致早期肾纤维化的足细胞以及肾小球基底膜的变化等方面.该文综述了最新的关于Alport综合征相关的基础和临床研究,以及足细胞及细胞外基质在Alport综合征发病中的作用.