Ⅳ型胶原相关肾病:从薄基膜肾病、Alport综合征到局灶节段性肾小球硬化  

Collagen Type Ⅳ related nephropathy: from TBMN,Alport Syndrome to FSGS

作　　者：章慧娣 谢静远 陈楠[1] 

机构地区：[1]上海市交通大学医学院附属瑞金医院肾脏科上海交通大学医学院附属肾脏病研究所,上海200025

出　　处：《肾脏病与透析肾移植杂志》2017年第4期366-369,350,共5页Chinese Journal of Nephrology,Dialysis & Transplantation

基　　金：国家重点基础研究发展计划(2012CB517604);国家重点研发计划(2016YFC0904100);国家自然科学基金(81570598)

摘　　要：新一代测序技术(NGS)的不断发展,推动了遗传性肾脏病致病基因定位及疾病谱的重新定义,其中Ⅳ型胶原(α3/α4/α5链)相关肾病的临床表型谱取得新的进展。最新多项研究发现COL4A3/COL4A4是家族性局灶节段性肾小球硬化新的致病基因,本文将综述及讨论Ⅳ型胶原α3/α4/α5链(COL4A3/COL4A4/COL4A5,COL4A3-5)相关肾病的临床疾病谱。The continuous development of next-generation sequencing（ NGS） technology has promoted new pathogenic gene mapping and redefinition of disease spectrum of hereditary kidney disease,for instance the clinical phenotype of collagen type Ⅳ related nephropathy has made new progress. In addition to Alport syndrome,thin basement membrane nephropathy and benign familial hematuria,the latest studies have been showed that COL4A3/COL4A4 are new pathogenic genes of familial focal segmental glomerulosclerosis（ FSGS）. Here,we review and discuss clinical phenotypic spectrum of collagen type IV chain（ α3/α4/α5）（ COL4A3/COL4A4/COL4A5,COL4A3-5）-related nephropathy.

关 键 词：Ⅳ型胶原 局灶节段性肾小球硬化 ALPORT综合征 薄基膜肾病 

分 类 号：R692[医药卫生—泌尿科学]