维生素D依赖性佝偻病IA型1例并文献复习被引量：2

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摘要维生素D依赖性佝偻病IA型是罕见的常染色体隐性遗传病,发病率无性别差异,目前尚无确切的流行病学资料,国内有关报道极少[1-2]。维生素D转化为活性维生素1,25-(OH)2D3.需先后在肝脏、肾脏经过两次羟化,而维生素D依赖性佝偻病IA型是由于1α羟化酶基因突变,25-(OH)D3-1α羟化酶合成障碍,导致25-(OH)D3无法在肾脏转化为活性的1,25-(OH)2D3,而影响钙磷代谢出现佝偻病。

作者李土凤黄宇戈张慧琼李妙芬

机构地区广东医科大学附属医院儿科

出处《中国儿童保健杂志》 CAS 2019年第5期577-578,共2页 Chinese Journal of Child Health Care

关键词维生素D依赖性佝偻病IA型 CYP27B1 类佝偻病遗传病骨化三醇

分类号 R723 [医药卫生—儿科]

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