Alport综合征的临床表现及诊疗进展  

Clinical Manifestations and Progress of Diagnosis and Treatment of Alport Syndrome

作　　者：赵颖玲 于力[1] ZHAO Ying-ling;YU Li(Department of Pediatrics,Guangzhou First People’s Hospital,Guangzhou 510180,Guangdong Province,China)

机构地区：[1]广州市第一人民医院儿科,广东广州510180

出　　处：《罕少疾病杂志》2022年第4期1-4,34,共5页Journal of Rare and Uncommon Diseases

基　　金：国家自然科学基金项目(81670652)。

摘　　要：Alport综合征(AS)是我国常见的具有遗传异质性的儿童肾脏疾病,以血尿、听力损坏、眼部病变及进行性肾功能衰竭等为临床特点,又被称为家族性出血性肾炎、遗传性进行性肾炎。其主要病理改变为组成肾小球、耳蜗、角膜、晶状体和视网膜中成熟基底膜的主要成分Ⅳ型胶原α3、α4或α5链的产生、沉积或功能的异常,主要为基底膜的Ⅳ型胶原α3、α4或α5链(COL4A3、COL4A4或COL4A5)基因变异所致。该病既可伴X性染色体遗传,也可伴常染色体遗传。X性染色体遗传为X连锁显性遗传(XL-AS),而常染色体遗传又分为显性遗传(AD-AS)和隐性遗传(AR-AS)。近年来随着检验检查技术的发展,儿童AS由既往所认为的罕见病逐渐变为常见疾病。但随着基因诊断方法的发展,如何及时诊断AS、明确基因突变类型,提出有效治疗方案一直是人们着重研究的问题。本文通过分析Alport综合征的诊断与治疗,以期人们提高对Alport综合征的再认识。Alport syndrome(AS)is one of the common renal diseases in children in China.It has genetic heterogeneity.It is characterized by hematuria,hearing damage,eye lesions and progressive renal failure.It is also known as familial hemorrhagic nephritis and hereditary progressive nephritis.The main pathological changes were abnormal of the production,deposition,or function of the theα3,α4,andα5 chains of collagen typeⅣ,the main component of mature basement membrane in glomerulus,cochlea,cornea,lens and retina,which is mainly caused by the mutations in the COL4A3,COL4A4 or COL4A5 genes.The disease can be inherited by both X-chromosome and autosomal.X-chromosome inheritance is X-linked dominant inheritance(X-linked Alport syndrome,XLAS),while autosomal inheritance has dominant inheritance(autosomal dominant Alport syndrome,ADAS)and recessive inheritance(autosomal recessive Alport syndrome,ARAS).In recent years,with the development of laboratory technology,children with as has gradually changed from a previously considered rare disease to a common disease.However,with the development of gene diagnosis methods,how to diagnose as in time,clarify the type of gene mutation and put forward effective treatment has always been a problem that people focus on.This paper analyzes the diagnosis and treatment of Alport syndrome in order to improve the recognition of Alport syndrome.

关 键 词：遗传性肾病 ALPORT综合征 临床表现 遗传方式 诊疗 

分 类 号：R692.3[医药卫生—泌尿科学]