对患有严重急性脑病变的儿童进行快速外体序列测序 - 一个案例系列
Clair Habib1, Tamar Paperna1, Rinat Zaid1
1The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
European journal of medical genetics
|February 7, 2024
概括
快速的外体序列测序在急性脑病变的重症儿童中迅速诊断出罕见的遗传疾病. 这种方法可以及时诊断,指导治疗和治疗严重的神经疾病.
科学领域:
- 遗传学 遗传学 是一个
- 神经学 神经学
- 儿科重症监护中心儿童重症监护中心
背景情况:
- 儿童的急性脑病变通常表现为非特异性症状,使初始诊断复杂化.
- 通常怀疑感染或炎症原因,延迟对遗传病因的考虑.
- 下一代测序 (NGS) 正在成为无法解释的神经系统疾病的强大诊断工具.
研究的目的:
- 评估快速外体序列测序在诊断严重急性脑病变的儿科患者中单基性疾病的有用性.
- 证明早期遗传诊断对临床管理和长期护理决策的影响.
主要方法:
- 在住院期间对三名患有严重急性脑病变的非相关儿科患者进行了快速外基因组测序.
- 分析了外基因组测序数据,以确定致病性和可能致病性变体.
- 与临床表现和结果相关的遗传发现.
主要成果:
- 外体序列测序在7-21天内为所有三名儿科患者提供了诊断.
- 所有被诊断的患者都在与衰退性疾病相关的基因 (MOCS2,NDUFS8,DBR1) 中具有致病变异的同胞性.
- 最初的临床检查并没有表明最终的遗传诊断.
结论:
- 快速外体序列测定在诊断重症儿童急性脑病变的单一原因方面是有效的.
- 早期遗传诊断可以显著改变患者管理,并为长期护理计划提供信息.
- 这项技术正在改变儿科重症监护机构的诊断范式.
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