重新探讨 Lightwood 综合征及其新型 CYP24 突变，并提出维生素 D 补充建议。
Lightwood syndrome revisited with a novel mutation in CYP24 and vitamin D supplement recommendations.
机构信息
Department of Pediatrics, National Reference Center for Rare Calcium and Phosphorus Metabolism Diseases, Rouen University Hospital and CIC INSERM 204, Rouen University Faculty of Medicine, Rouen, France.
出版信息
J Pediatr. 2013 Oct;163(4):1208-10. doi: 10.1016/j.jpeds.2013.04.056. Epub 2013 Jun 14.
A novel mutation in CYP24A1 provides insight into idiopathic infantile hypercalcemia. In this report of 3 brothers, in twins supplemented with vitamin D (1900 IU/d), only the twin homozygous for CYP24A1 exhibited idiopathic infantile hypercalcemia. A subsequently affected younger brother given vitamin D 400 IU/d was not hypercalcemic.
CYP24A1 中的一种新突变为特发性婴儿高钙血症提供了新的认识。在本报告中，有 3 位兄弟，其中一对双胞胎补充了维生素 D（1900IU/d），仅 CYP24A1 纯合子的双胞胎表现出特发性婴儿高钙血症。随后接受 400IU/d 维生素 D 治疗的受影响较小的弟弟并未出现高钙血症。
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