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.
出处
《肾脏病与透析肾移植杂志》
CSCD
北大核心
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)
