Alport综合征遗传学特征和诊治进展

Genetic Characteristics and Progress in Diagnosis and Treatment of Alport Syndrome

Alport综合征是一类由Ⅳ型胶原基因突变所致的遗传性肾病,根据不同遗传方式分为X连锁Alport综合征、常染色体显性Alport综合征、常染色体隐性Alport综合征和双基因Alport综合征。临床表现具有异质性,从孤立性血尿或血尿伴蛋白尿到进行性肾功能衰竭,伴或不伴有肾外表现。该文综述Alport综合征的遗传学特征、生物标记物和治疗等相关研究进展,以期为该病的早期诊治和改善远期预后提供参考。

Alport syndrome is a type of hereditary kidney disease caused by mutations in the type IV collagen gene.Depending on the genetic mode,it can be divided into X-linked Alport syndrome,autosomal dominant Alport syndrome,autosomal recessive Alport syndrome,and digenic Alport syndrome.The clinical manifestations are heterogeneous,ranging from isolated hematuria or hematuria with proteinuria to progressive renal failure,with or without extrarenal manifestations.This article reviews the genetic characteristics,biomarkers,and treatment-related research of Alport syndrome,aiming to provide reference for enhancing early diagnosis and treatment and optimize long-term prognosis.