双基因Alport综合征研究进展  

Advances in digenic Alport syndrome

作　　者：张宏文[1] ZHANG Hongwen(Department of Paediatrics,Peking University First Hospital,Beijing 100034,China)

机构地区：[1]北京大学第一医院儿科,北京100034

出　　处：《临床儿科杂志》2024年第11期983-986,共4页Journal of Clinical Pediatrics

摘　　要：双基因Alport综合征特指在Alport综合征的3个致病基因(COL4A3、COL4A4和COL4A5)中存在两个不同基因的致病性变异,包括两种类型,其一为COL4A5合并COL4A3或COL4A4两个基因之一的致病性变异;其二为COL4A3和COL4A4两个基因的各一致病性变异。理论上,双基因Alport综合征的临床表型相对较单基因Alport综合征可能更重,特别是蛋白尿和肾功能异常的出现时间更早、程度更重,但需要多中心、大样本研究去证实。Digenic Alport syndrome(AS)refers to two pathogenic variants in different genes of COL4A3,COL4A4 and COL4A5.This condition is categorized into two subtypes:one subtype results from a pathogenic variant in COL4A5 combined with another in either COL4A3 or COL4A4,while the other subtype arises from pathogenic variants in both COL4A3 and COL4A4.Although digenic AS is hypothesized to exhibit more pronounced clinical manifestations,particularly with respect to proteinuria and renal impairment,definitive evidence necessitates additional multicenter,largesample studies for validation.

关 键 词：ALPORT综合征 双基因变异 COL4A3 COL4A4 COL4A5 

分 类 号：R726.9[医药卫生—儿科]