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在一个大型的中国队列中,遗传性原发性甲状腺功能障碍症的遗传和临床查:单中心研究研究

An Song¹, Yi Yang¹, Yue Jiang¹

¹Key laboratory of Endocrinology, Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

|July 14, 2023

概括

遗传性原发性甲状腺功能障碍症 (PHPT) 在中国占病例的18.8%. 患有PHPT的年轻患者,特别是患有多腺体疾病的患者,应接受遗传形式的遗传查.

科学领域:

内分泌学在内分泌学.
遗传学是一个遗传学.
在瘤学瘤学.

背景情况:

原发性偏甲状腺症 (PHPT) 包括零星和遗传形式.
关于中国遗传性PHPT的患病率和遗传基础的数据有限.
了解遗传PHPT对于准确的诊断和管理至关重要.

研究的目的:

确定中国队列中遗传性PHPT的比例和遗传组成.
分析遗传性PHPT中的基因型-表型相关性.
确定遗传PHPT查的临床指标.

主要方法:

在394名PHPT患者的基因查中,使用了目标下一代测序 (T-NGS) 和多重结依赖探头放大 (MLPA).
分析的基因包括MEN1,RET,CDKN1B,CaSR,HRPT2/CDC73,GNA11,AP2S1和GCM2. 这三种基因.
诊断整合了临床数据,家族病史和遗传发现.

主要成果:

确定了18.8% (74/394) 的遗传PHPT率.
遗传性PHPT患者呈现较早发病 (35.4岁与50.6岁) 和较低的入院年龄.
在遗传病例中发现了较高的电离,血清β-CTX,副甲状腺增生和多腺干扰.

结论:

遗传性PHPT是中国整体PHPT负担的重要贡献者.
建议对PHPT患者进行遗传查,这些患者患有多腺体疾病,家族病史呈阳性,或在38岁之前发病.
早期识别遗传性PHPT有助于量身定制的管理和遗传咨询.

关键词:

临床查临床查遗传变异是一种基因变异.遗传是一种遗传.主要的甲状腺功能过高.有针对性的下一代测序.

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