分子诊断是增长激素治疗对矮身儿童反应的重要指标
Qianqian Zhao1, Mei Zhang1, Yanying Li1
1Department of Endocrinology, Genetics and Metabolism, Affiliated Hospital of Jining Medical University, Jining Medical University, 89 Guhuai Road, Jining, Shandong 272029, PR China; Chinese Research Center for Behavior Medicine in Growth and Development, 89 Guhuai Road, Jining, Shandong 272029, PR China.
Clinica chimica acta; international journal of clinical chemistry
|January 14, 2024
概括
在矮小的儿童中进行遗传测试有助于预测复合人体生长激素 (rhGH) 治疗反应. 鉴定突变指导个性化rhGH疗法,以改善儿科矮身患者的治疗结果.
科学领域:
- 儿科内分泌学 儿科内分泌学
- 人类遗传学 人类遗传学
- 分子生物学分子生物学
背景情况:
- 复合人体生长激素 (rhGH) 的有效性在身高矮的儿童中有所不同.
- 确定矮身的遗传基础对于有效治疗至关重要.
- 分子诊断可以预测rhGH治疗反应.
研究的目的:
- 为了确定儿童矮身的遗传病因.
- 评估分子诊断在预测 rhGH 治疗疗效方面的作用.
- 为了将遗传发现与 rhGH 治疗结果相关联.
主要方法:
- 在407名矮小的儿童身上进行了整体外体测序 (WES).
- 分析了基因变异,以确定矮身的潜在原因.
- 在226名患者中,评估了已识别的突变与rhGH治疗反应之间的相关性.
主要成果:
- 在21.1%的患者中发现了致病性或可能致病性突变,包括新型变异.
- 基本细胞过程中的基因,特别是RAS-MAPK通路,经常受到影响.
- 没有突变的患者或具有激素信号通路突变的患者表现出更好的rhGH反应,而近因子突变预测了更差的反应.
结论:
- 全外体测序 (WES) 对于诊断儿童矮身的遗传原因是有效的.
- 鉴定特定的基因突变是预测患者对rhGH治疗反应的关键因素.
- 分子诊断有助于定制儿童矮身的rhGH治疗策略.
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