Genetic, Clinical, and Pathologic Backgrounds of Children With X-Linked Alport Syndrome in China: A Monocenter Study.

IF 1.4 Q3 PEDIATRICS

Global Pediatric Health Pub Date : 2024-01-19 eCollection Date: 2024-01-01 DOI:10.1177/2333794X231221935

Ding Juan-Juan, Wang Jia, Liu Li-Li, Wang Si, Wang Xiao-Wen, Luan Jiang-Wei, Ke Li-Qin, Sun Jie, Zhao Pei-Wei

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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.

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中国 X 连锁阿尔波特综合征患儿的遗传、临床和病理背景：单中心研究

背景。中国儿童队列中 X 连锁阿尔波特综合征（XLAS）的特征。研究方法本研究是一项回顾性研究，涵盖 2011 年至 2022 年期间 32 例 XLAS 患儿的临床信息、病理数据和基因测序结果。结果在这 32 例患者中，最小的发病年龄为 3 个月。对29名儿童进行了肾活检。用电子显微镜观察到19名患儿（65.5%）的肾小球基底膜呈片状。在检测的26份样本中，73.1%的样本在免疫组化染色下发现胶原蛋白-a5呈阴性，显示出临床意义。下一代测序（NGS）检测到 27 个致病基因突变。共有15.4%的患者携带新基因突变。结论XLAS男孩的病理表现比女孩更典型。严重突变的患者更容易出现蛋白尿和听力障碍。肾脏病理结合NSG是诊断强直性脊柱炎的重要手段。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Global Pediatric Health Nursing-Pediatrics

CiteScore

2.20

自引率

0.00%

发文量

105

审稿时长

12 weeks