在患有肝功能障碍的儿科患者中快速基因组测序诊断
Danielle Bonser1, Sabrina Malone Jenkins2, Rachel Palmquist3
1University of Utah School of Medicine, Salt Lake City, UT.
The Journal of pediatrics
|June 3, 2023
概括
快速全基因组测序 (rWGS) 诊断了多达50%的儿科急性肝功能障碍病例. 这种加速的基因测试影响了临床管理,支持其在重症儿童的常规使用.
科学领域:
- 基因组学就是基因组学.
- 儿科医学 儿科医学
- 肝病学 肝病学是一种肝病学.
背景情况:
- 儿童急性肝功能障碍是一种严重的疾病,具有显著的发病率和死亡率.
- 建立及时准确的诊断对于有效的管理和改善患者结果至关重要.
研究的目的:
- 评估快速全基因组测序 (rWGS) 在患有急性肝功能障碍的儿科患者的诊断效用和临床影响.
- 在这个特定的患者群体中确定rWGS的周转时间和诊断产量.
主要方法:
- 对经过rWGS的急性肝功能障碍儿童进行了回顾性,基于人口的队列研究.
- 在患者和父母的血液样本上进行的rWGS.
- 阳性和阴性rWGS结果的患者之间的临床特征的比较.
主要成果:
- 在18名患者中,rWGS在7名患者 (39%) 中确定了诊断,平均周转时间为8天.
- 在排除有毒暴露的病例后,诊断产量增加到50% (14中的7个).
- 根据rWGS的发现,33%的患者 (共18人中的6人) 的临床管理发生了改变.
结论:
- 快速全基因组测序是诊断儿科急性肝功能障碍的宝贵工具,可达到高达50%的诊断率.
- 由于rWGS的快速性质,在危及生命的儿科病情中,可促进及时的临床决策.
- 这些发现支持将rWGS整合到急性肝功能障碍儿童的常规诊断工作中.
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