Research advances on the diagnosis and treatment of hypophosphatemic rickets in children

XU Yu-yan; ZHU Liu-yan; SHAO Jie

doi:10.11852/zgetbjzz2020-1413

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Chinese Journal of Child Health Care ›› 2021, Vol. 29 ›› Issue (11) : 1213-1217. DOI: 10.11852/zgetbjzz2020-1413

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Research advances on the diagnosis and treatment of hypophosphatemic rickets in children

XU Yu-yan, ZHU Liu-yan, SHAO Jie

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Abstract

Hypophosphatemic rickets(HR),also known as familial hypophosphatemia,is a hereditary disease characterized by hypophosphatemia and renal phosphate loss,mainly manifested as bone mineralization disorders. It includes a group of diseases with similar phenotypes but different genotypes,hereditary patterns and etiologies. The most common HR is X-linked dominant hypophosphatemic rickets(XLH). Uncommon HR may be caused by autosomal dominant or recessive inheritance. Activation mutation of fibroblast growth factor 23(FGF23) gene and inactivation mutation of regulation gene involved in FGF-23 regulation have been confirmed and proved to be related to the pathogenesis of these disorders. The pathophysiology,pathogenesis,clinical manifestations,diagnosis and treatment of HR will be reviewed in this paper reviews.

Key words

hypophosphatemic rickets / fibroblast growth factor 23 / PHEX gene / children

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XU Yu-yan, ZHU Liu-yan, SHAO Jie. Research advances on the diagnosis and treatment of hypophosphatemic rickets in children[J]. Chinese Journal of Child Health Care. 2021, 29(11): 1213-1217 https://doi.org/10.11852/zgetbjzz2020-1413

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