活检与蛋白尿症儿童的风险之间的争议:有没有范式战争?
1Department of Nephrology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, No. 56 Nanlishi Street, Xi Cheng District, Beijing, 100045, China.
BMC nephrology
|July 11, 2024
概括
基因检测发现了一种罕见的AMN基因突变,导致儿童慢性单独蛋白尿. 这表明基因测序可能是一个有价值的,不那么侵入性替代活检的早期诊断在类似的儿科病例.
科学领域:
- 儿科脏病学 儿科脏病学
- 医学遗传学 医学遗传学
背景情况:
- 蛋白尿是常见的儿科脏病学问题,脏活检是目前组织分析的标准,尽管有争议.
- 儿童中孤立的蛋白尿症往往会带来诊断挑战,需要精确的诊断方法.
研究的目的:
- 报告儿童AMN基因突变引起的慢性单独蛋白尿症的罕见病例.
- 评估基因检测作为活检替代品的实用性,用于诊断儿科患者的分离蛋白尿症.
主要方法:
- 一个35个月大的男孩患有非脏性范围蛋白尿症,接受了基因检测,而不是脏活检.
- 基因分析揭示了AMN基因中的复合异合体变异体,其中父母双方都有贡献.
主要成果:
- 患者出现了慢性单独蛋白尿,最初怀疑是混合蛋白尿.
- 基因检测在AMN基因中发现了复合异构体变异体,证实了遗传原因.
结论:
- 除了CUBN,AMN基因变异也与包括蛋白尿在内的遗传性疾病有关.
- 这个案例是第一个将AMN基因突变与分离蛋白尿症联系在一起的案例,这表明基因测序可能是非脏性蛋白尿症儿童的具有成本效益和无害的早期诊断工具.
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