维生素D依赖性II型狂犬病的延迟诊断导致严重的骨形变
Erum Sohail1, Tasnim Ahsan1, Rukhshanda Jabeen2
1Medicell Institute of Diabetes Endocrinology & Metabolism (MIDEM), Karachi.
概括
维生素D依赖性风II型 (VDDR-II) 是一种罕见的遗传性疾病. 两名患者的诊断延迟导致严重的骨问题,强调需要及时识别和治疗这种维生素D耐药性状况.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 维生素D依赖性风II型 (VDDR-II) 是一种罕见的遗传性疾病.
- 它源于维生素D受体基因的突变,导致对1,25-二氧维生素D的抵抗.
- 这导致显著的和骨代谢障碍.
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