维生素D依赖性佝偻病,是一种罕见的常染色体隐性遗传病,包括维生素D依赖性佝偻病Ⅰ型和Ⅱ型,男女发病率相同。前者是由于1α羟化酶基因突变所致,后者是由于维生素D受体基因突变所致。两者临床表现与维生素D缺乏性佝偻病相似,实验室指标主要表现为血清钙、磷显著降低,碱性磷酸酶明显升高,继发性甲状旁腺功能亢进。目前两种佝偻病的治疗都在探索阶段,Ⅰ型可能需大剂量骨化三醇治疗,而Ⅱ型尚未明确治疗方案。
Abstract
Vitamin D-dependent rickets is a rare autosomal-recessive disorder,which including vitamin D-dependent rickets type Ⅰand type Ⅱ.The incidence is the same between male and female.The fomer type is caused by mutations in CYP27B1 gene,while the later is caused by mutations in vitamin D receptor gene.The clinical course of both is similar to that of nutritional rickets due to simple vitamin D deficiency.Characteristic laboretory features are hypoclaemia,hepophosphatemia,increased serum concentrations of alkaline phosphatase and secondary hyperparathyroidism.To date,the treatment of two kinds of rickets is in the stage of exploration,type Ⅰ maybe need a high dose calcitriol for treatment,while there is no consensus on the treatment of type Ⅱ.
关键词
维生素D /
维生素D-1α /
羟化酶 /
维生素D受体 /
基因突变
Key words
vitamin D /
vitamin D 1 alpha-hydroxylase /
vitamin D receptor /
gene mutations
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