阿尔波特综合征
肾病
肾小球基底膜
肾小球肾炎
医学
基底膜
基因
内科学
病理
生物
遗传学
免疫学
肾
内分泌学
糖尿病
作者
Xiaohan Yuan,Qing Su,Hui Wang,Sufang Shi,Lijun Liu,Jicheng Lv,Suxia Wang,Zhu Li,Hong Zhang
出处
期刊:Journal of The American Society of Nephrology
日期:2022-09-21
卷期号:34 (1): 132-144
被引量:14
标识
DOI:10.1681/asn.2021111447
摘要
Thinned glomerular basement membrane (tGBM) lesions are not uncommon in IgA nephropathy (IgAN). Type IV collagen-built of α 3, α 4, and α 5 chains, encoded by COL4A3 / COL4A4 / COL4A5 genes-is the major component of glomerular basement membrane (GBM). In recent years, mutations in type IV collagen-encoding genes were also reported in patients with a histologic diagnosis of FSGS. Pathogenic COL4A3 / COL4A4 / COL4A5 variants were recently identified in familial cases of IgAN, but the contribution of these variants to sporadic IgAN is still unclear.
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