Article
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.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 23 Nov 2022
Di Hongling, Zhang Jiahui, Gao Erzhi, Zheng Chunxia, Huang Xianghua, Wang Qing, Yu Xiaomin, Liu Zhihong
Abstract excerpt
BACKGROUND: Alport syndrome (AS) is an inherited type IV collagen-related disorder with an irreversible tendency to progress to end-stage renal disease (ESRD). X-linked AS (XLAS) is caused by mutations in the COL4A5 gene. The aim of this study was to investigate the effects of underlying mutations on clinical manifestations and the response to therapy in XLAS. METHODS: We conducted a retrospective cohort study of...
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