维生素D依赖性风1A型模仿伪低甲状腺症在存在活性结核病的情况下
Sambit Das1, Vishal Agarwal1, Binod Prusty1
1Department of Endocrinology, Kalinga Institute of Medical Sciences, Bhubaneswar 751024, Odisha, India.
JCEM case reports
|October 1, 2024
概括
由CYP27B1基因变异引起的1A型维生素D依赖性狂犬病,可以模仿伪偏偏甲状腺症. 在患有同时结核病的患者中发现了一种新型突变,突出显示了诊断方面的挑战.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 是一个遗传学.
- 代谢性骨疾病 代谢性骨疾病
背景情况:
- 维生素D依赖性狂犬病1A型 (VDDR1A) 是由CYP27B1基因中的自体逆向病原体变异引起的.
- 这些变体会损害1α-氧酶酶,这对于合成维生素D的活性形式 (1,25(OH) 2维生素D至关重要.
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