Vitamin D-dependent rickets

CHEN Xiao-yang; ZHAO Zheng-yan

doi:10.11852/zgetbjzz2017-25-05-13

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Chinese Journal of Child Health Care ›› 2017, Vol. 25 ›› Issue (5) : 478-480. DOI: 10.11852/zgetbjzz2017-25-05-13

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Vitamin D-dependent rickets

CHEN Xiao-yang, ZHAO Zheng-yan

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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.

Key words

vitamin D / vitamin D 1 alpha-hydroxylase / vitamin D receptor / gene mutations

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CHEN Xiao-yang, ZHAO Zheng-yan. Vitamin D-dependent rickets[J]. Chinese Journal of Child Health Care. 2017, 25(5): 478-480 https://doi.org/10.11852/zgetbjzz2017-25-05-13

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