在中国儿科患者中进行全外测序,这些患者患有结石病
Xiaochuan Wang1,2, Yining Zhao3,4, Youquan Zhao1,2
1Department of Urology, Beijing Friendship Hospital, Capital Medical University, China.
Kidney international reports
|August 15, 2025
概括
在31%的儿科患者中,基因检测确定了结石的原因. 分子诊断与严重症状相关,可以指导儿童结症的个性化治疗.
科学领域:
- 儿科脏病学 儿科脏病学
- 医学遗传学 医学遗传学
- 基因组学就是基因组学.
背景情况:
- 儿科石病的发病率正在上升,对遗传贡献的兴趣也在增加.
- 了解遗传基础对于诊断和管理至关重要.
研究的目的:
- 调查中国人口中儿科结石病的遗传病因.
- 识别致病性遗传变异及其与临床表型的相关性.
主要方法:
- 整体外基因组测序 (WES) 在456名儿童身上进行了超过11年的时间.
- 临床和遗传数据被系统地收集和分析.
主要成果:
- 在141名儿童 (31%) 中实现了分子诊断,确定了16个基因中的260个变异.
- 主要的高氧流和囊流是最常见的诊断.
- 积极的分子诊断与更严重的临床表现有关,包括复发性,双边或多重结石和骨.
结论:
- 在中国人群中,遗传因素在儿科石病中起着重要作用.
- 整体外体序列测序对于确认或改进诊断非常有价值,使得量身定制的干预措施成为可能.
- 分子诊断可以识别患有严重疾病风险较高的患者.
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