CYP3A4突变导致维生素D依赖性风3型:沙特阿拉伯的一份病例报告
Abdullah Al-Ashwal1, Asma Al Zahrani1, Nada Dammas2
1Pediatric Endocrinology, King Faisal Specialist Hospital and Research Centre, Riyadh, SAU.
Cureus
|January 5, 2024
概括
维生素D依赖性狂犬病3型 (VDDR3) 可能是由特定的CYP3A4基因突变引起的,导致维生素D不活化. 这一案例凸显了管理受影响儿童维生素D水平的重要性.
科学领域:
- 儿科 儿科 儿科
- 遗传学 是一个遗传学.
- 内分泌学 在内分泌学.
背景情况:
- 风是一种由维生素D缺乏引起的儿童疾病,导致骨矿化和生长不良.
- 遗传缺陷,包括CYP3A4基因的突变,可以通过加速维生素D代谢来引起维生素D依赖性3型 (VDDR3).
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