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

作　　者：邵盼盼 马雪晴 仇丽茹[1,2] SHAO Panpan;MA Xueqing;QIU Liru(Department of Pediatric Nephrology,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430030,China;Hubei Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases,Wuhan 430030,China)

机构地区：[1]华中科技大学同济医学院附属同济医院儿童肾脏专科,武汉430030 [2]儿童遗传代谢内分泌罕见病湖北省重点实验室,武汉430030

出　　处：《医药导报》2024年第12期1971-1976,共6页Herald of Medicine

基　　金：湖北省卫生健康委科研项目面上项目(WJ2023M004);北京医学奖励基金会项目(YXJL-2023-0866-0329)。

摘　　要：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.

关 键 词：ALPORT综合征 遗传学特征 生物标记物 早期诊治 预后 

分 类 号：R572[医药卫生—消化系统]