本研究报道一例由新型COL4A4杂合错义突变（c.913G>C，p.Gly305Arg）引发的常染色体显性Alport综合征（ADAS），通过肾活检（GBM广泛变薄）和基因测序（NGS技术）明确诊断，解决了ADAS因缺乏典型肾外表现（如SNHL）导致的误诊难题。该发现拓展了COL4A4突变谱，强调遗传 ...

这篇研究通过靶向外显子测序（TES）对中国西南地区20例临床疑似Alport综合征（AS）患儿进行分子诊断，鉴定出21个COL4A3/4/5基因 ...

The glomerular basement membrane (GBM) is a specialized form of basement membrane that has a major role in the maintenance of the glomerular filtration barrier. Like all basement membranes, it ...

Subarachnoid hemorrhage from ruptured saccular intracranial aneurysms (IAs) is fatal in ≈50% of cases. Significant effort has been devoted to identifying the molecular pathogenesis of IAs to develop ...

This case report describes the presence of bilateral macular atrophy in a patient with Alport syndrome and compares this finding with literature. At fundoscopy, there was a discrete circumscribed ...