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优化矮身儿童的诊断:综合临床和NGS方法

Laura Guazzarotti¹, Chiara Mozzato², Silvia Zoletto¹

¹Paediatric Endocrinology Unit, Department of Women's and Children's Health, University Hospital of Padova, Padova, Italy.

Endocrine connections

|August 27, 2025

概括

下一代测序 (NGS) 有效地诊断出小身高 (SS) 的遗传原因. 这种有针对性的方法在14%以上的病例中发现了致病变体,有助于临床管理.

科学领域:

遗传学
儿童医学
内分泌学

背景情况:

矮身 (SS) 是儿童内分泌学转诊的常见原因.
遗传因素是身高变化的主要驱动因素.
鉴定SS的遗传原因对于预后和治疗至关重要.

研究的目的:

评估针对性下一代测序 (NGS) 的诊断产量,用于特异性矮身 (ISS) 和特异性生长激素缺乏症 (GHD-SS) 的儿童.
评估NGS作为例行临床实践中的一线诊断工具的有用性.

主要方法:

一组102名无法解释的SS儿童 (不包括SGA和已知的遗传疾病) 接受了针对性的NGS治疗.
对检测到的变异进行了与家长测试的分离分析.
患者被分为GHD- SS (n=57) 和ISS (n=45) 组.

主要成果:

NGS的整体诊断收益率为14. 9%.
在 14. 3% 的 GHD- SS 患者和 15. 6% 的 ISS 患者中发现了因果变异.
在家族性ISS (23. 8%) 和零星性ISS (8. 7%) 中,基因诊断率较高.

结论:

针对性NGS是诊断未知病因儿童矮身的遗传原因的重要一线工具.
准确的表型化对于最大限度地提高分子测试的诊断性能至关重要.
鉴定SS的遗传基础为预测结果和指导治疗提供了关键信息.

关键词:

GH 缺乏症国际空间站基因检测矮身的人

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