中文摘要：

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。

英文摘要：

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.