怀孕期间出现高血症和高维他命 D 的 CYP24A1 缺乏症:一个病例报告
Susanne U Trost1, Lynn Burmeister1
1Endocrinology, Diabetes and Metabolism, University of Minnesota Medical School, Minneapolis, USA.
Cureus
|February 4, 2026
概括
维生素D中毒可能发生在敏感人群中,特别是在怀孕期间. 遗传CYP24A1缺乏症与补充剂相结合,可以在孕妇中引发危险的高血症.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 遗传学 是一个
- 产科 产科 产科 产科 产科
背景情况:
- 维生素D的补充是广泛的,但可以导致敏感个体的毒性.
- 怀孕期间的高血症很少见,但存在风险.
- CYP24A1缺乏症是一种罕见的遗传疾病,影响维生素D代谢.
研究的目的:
- 在怀孕期间报告非甲状腺激素依赖的高血症病例.
- 为了研究孕妇维生素D中毒的遗传基础.
- 突出维生素D和补充剂对敏感个体的风险.
主要方法:
- 一个32岁的孕妇患有高血症的病例报告.
- 血清维生素D代谢物 (25-二氧维生素D,,24,25-二氧维生素D) 的实验室分析.
- 对CYP24A1变种进行遗传测试.
主要成果:
- 患者出现了超生理学血清维生素D水平和高血症.
- 实验室发现表明维生素D中毒和CYP24A1缺乏.
- 鉴定出一种同卵性CYP24A1变体 (c.1490A>C;p.His497Pro).
- 怀孕引起的荷尔蒙变化加剧了这种情况.
结论:
- 缺乏CYP24A1会增加怀孕期间高血症的风险.
- 维生素D和补充剂可以在这些患者中引发严重的高血症.
- 应考虑在有症状的孕妇中进行常规度监测.
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