阿尔波特综合征
肌纤维发育不良
医学
突变
听力损失
IV型胶原
肾炎
基因
病理
内科学
遗传学
肾动脉
生物
听力学
层粘连蛋白
肾小球肾炎
肾
细胞
作者
Shuhei Egashira,Masayuki Shiozawa,Yoshiaki Morita,Kandai Nozu,Fumiki Yoshihara,Masatoshi Koga
标识
DOI:10.1016/j.jstrokecerebrovasdis.2024.107816
摘要
Alport syndrome is a genetic disorder caused by mutations in the COL4A5 gene, which encodes type IV collagen α5 chain, leading to chronic nephritis, hearing loss, and ocular abnormalities. Recent reports suggest this genetic mutation may also increase the risk of cerebral aneurysms and fibromuscular dysplasia, indicating a potential association with vascular vulnerability.
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