严重的高血症是由于原发性甲状腺功能障碍症和CYP24A1的异性致病变体
Jannel Liu1, Peter Angelos2, Maan Barhoum3
1Department of Endocrinology, Diabetes, and Metabolism, University of Chicago Medicine, Chicago, IL 60637, USA.
JCEM case reports
|November 1, 2023
概括
一名年轻女性的严重高血症与原发性偏甲状腺症和CYP24A1基因变异有关. 治疗使和维生素D水平正常化,突出显示了基因.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 是一个遗传学.
- 代谢障碍 代谢障碍 代谢障碍
背景情况:
- 在CYP24A1的致病变体损害1,25-二氧维生素D (1,25-DHVD) 分解,可能导致高热血症.
- 初级甲状腺功能障碍症是高血症的常见原因之一.
- 很少有人报告这些条件在单个患者的综合作用.
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