在印度队列中的阿尔波特综合征谱
Menka Yadav1, Trishla Jadon2, Geetika Singh2
1Division of Nephrology, ICMR Center for Advanced Research in Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.
Pediatric nephrology (Berlin, Germany)
|September 15, 2024
概括
下一代测序有助于诊断阿尔波特综合征 (AS) 超出典型表现. 这项研究突出了多样化的表型和常见的不良结果,特别是在X链AS的男孩中.
科学领域:
- 遗传学 是一个遗传学.
- 腎臟病學 (nephrology) 是一種醫學.
- 分子生物学分子生物学
背景情况:
- 下一代测序 (NGS) 推进了IV型原体疾病的非侵入性诊断,超越了典型的阿尔波特综合征 (AS) 呈现.
- 国家基因系统有助于识别导致原IV缺陷的遗传变异.
研究的目的:
- 用NGS分析被诊断患有阿尔波特综合征的儿童的临床和组织学数据.
- 为了分类遗传变异,并评估疾病表型和结果.
主要方法:
- 通过NGS.通过阿尔波特综合征诊断的儿科患者的临床和组织学记录的回顾性审查.
- 使用ACMG 2015标准对已识别的变种进行分类.
- 对患者人口统计,临床表现,功能 (eGFR),活检结果和长期结果的分析.
主要成果:
- 在2015-2023年期间,发现了43名患者 (34名男孩) 患有39种COL4A5,COL4A4或COL4A3变异.
- 分别在30名,8名和5名患者中观察到X相关,自体衰退和自体主导形式.
- 不同的表型包括类固醇耐药性性综合征,神经传感器听力损失和眼,其中12名患者进展到晚期CKD.
结论:
- 阿尔波特综合征表现出广泛的临床表现,从轻微的尿路异常到严重的脏疾病和脏综合征.
- 不良结果,包括进展为慢性病,是常见的,特别是在X链接阿尔波特综合征的男性患者.
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