Genetic typing and research progress of hypophosphatemic rickets

LI Na; WANG Lin; JIN Chun-hua

doi:10.11852/zgetbjzz2019-1596

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Chinese Journal of Child Health Care ›› 2020, Vol. 28 ›› Issue (12) : 1355-1359. DOI: 10.11852/zgetbjzz2019-1596

Genetic typing and research progress of hypophosphatemic rickets

LI Na, WANG Lin, JIN Chun-hua

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Abstract

Hypophosphatemic rickets (HR),also known as familial hypophosphatemia or renal hypophosphatemic rickets,is a single gene genetic disease characterized by renal phosphate loss,vitamin D metabolism and bone mineralization disorders.According to whether the disease is regulated by FGF23,the disease can be divided into FGF23 dependent HR and non FGF23 dependent HR.At present,many specific pathogenic genes related to HR have been found,including X-linked,autosomal dominant and autosomal recessive.This paper reviews the genetic typing and research progress of vitamin D rickets.

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hypophosphatemic rickets / genetic typing / research progress

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LI Na, WANG Lin, JIN Chun-hua. Genetic typing and research progress of hypophosphatemic rickets[J]. Chinese Journal of Child Health Care. 2020, 28(12): 1355-1359 https://doi.org/10.11852/zgetbjzz2019-1596

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