Dissecting the genotype-phenotype correlation of COL4A5 gene mutation and its response to renin-angiotensin-aldosterone system blockers in Chinese male patients with Alport syndrome.

Hongling Di,Jiahui Zhang,Erzhi Gao,Chunxia Zheng,Xianghua Huang,Qing Wang,Xiaomin Yu,Zhihong Liu

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association（2022）

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摘要

Clinical features and response to RAAS blockers were observed to be strongly correlated with the genotypes of male XLAS patients. Genotyping of COL4A5 gene mutations is essential and is a useful tool to assess the prognosis of AS patients.

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关键词

COL4A5 gene,Alport syndrome,genotype–phenotype correlation,nephroprotection,renin–angiotensin–aldosterone system (RAAS) blocker

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