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Abstract：
Background. Characteristics of X-linked Alport syndrome (XLAS) in a cohort of Chinese children. Methods. This work is a retrospective study covering the clinical information, pathological data, and gene sequencing results of 32 cases with XLAS from 2011 to 2022. Results. Among these 32 patients, the youngest age of onset was 3 months. Renal biopsy was performed on 29 children. The lamellated glomerular basement membrane was observed in 19 children using electron microscopy (65.5%). Of the 26 samples tested, 73.1% were found to be negative for collagen-a5 under immunohistochemical staining, showing clinical significance. Next-generation sequencing (NGS) detected 27 pathogenic gene mutations. A total of 15.4% of patients carried de novo mutations. Conclusions. The boys with XLAS showed more typical pathological performance than the girls. Patients with severe mutation were more likely to have proteinuria and hearing impairment. Renal pathology combined with NSG is an important means of diagnosis of AS.
摘要：
背景。中国儿童X连锁Alport综合征（XLAS）的特征。方法。这项工作是一项涵盖临床信息的回顾性研究，病理资料,2011年至2022年32例XLAS的基因测序结果。结果。在这32名患者中，最小的发病年龄为3个月。对29例患儿进行肾活检。用电子显微镜观察到19例儿童的肾小球基底膜层状（65.5％）。在测试的26个样本中，73.1%的患者在免疫组织化学染色下发现胶原-a5阴性,显示临床意义。下一代测序（NGS）检测到27个致病基因突变。共有15.4%的患者携带从头突变。Conclusions.XLAS的男孩比女孩表现出更典型的病理表现。具有严重突变的患者更容易出现蛋白尿和听力障碍。肾脏病理联合NSG是诊断AS的重要手腕。
