探索出生后生长失败的遗传原因 对于妊娠年龄而言出生不小的儿童
Yoo-Mi Kim1,2, Han-Hyuk Lim2,3, Eunhee Kim1,2
1Department of Pediatrics, Chungnam National University Sejong Hospital, Sejong 30099, Republic of Korea.
Journal of clinical medicine
|October 28, 2023
概括
基因检测确定了超过40%的家族矮身 (FSS) 和异常矮身 (ISS) 儿童的矮身 (SS) 的原因. 这种遗传洞察力可以指导生长激素 (GH) 治疗对非小的妊娠年龄 (非SGA) 儿童的有效性.
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:
- 在儿童中,家族矮身 (FSS) 和异常矮身 (ISS) 是常见的.
- 增长板功能障碍越来越被认为是FSS和ISS的遗传基础.
- 了解基因基础对于有效的治疗策略至关重要.
研究的目的:
- 调查ISS和FSS患者生长衰竭的单一原因.
- 分析基因特征患者对生长激素 (GH) 治疗的反应.
- 为了确定针对这些条件的向外体序列测序的诊断产量.
主要方法:
- 在被诊断为ISS或FSS的患者身上进行了向的外体序列测序.
- 确定了基因变异和副本数变异.
- 在基因确诊病例中评估了对GH治疗的反应.
主要成果:
- 在45.5%的FSS和35.7%的ISS患者中发现了遗传原因.
- 诊断收益率总体为41.7%,综合征性 (90%) 与非综合征性 (23.1%) 矮身的比率更高.
- 基因确诊的患者在GH疗法下显著改善身高 (从-2.6到-1.3SDS).
- 鉴定的遗传原因涉及诸如膜信号传递,细胞外基质和细胞内过程等途径.
结论:
- 单基生长衰竭是FSS和ISS的重要原因之一.
- 有针对性的外体序列测定在诊断矮身的遗传原因方面是有效的.
- 识别特定的遗传病因可以为预后提供信息,并指导非小的妊娠年龄 (非SGA) 儿童的GH治疗决策.
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