journal1 ›› 2020, Vol. 28 ›› Issue (12): 1355-1359.DOI: 10.11852/zgetbjzz2019-1596

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Genetic typing and research progress of hypophosphatemic rickets

LI Na, WANG Lin, JIN Chun-hua   

  1. Department of Child Health Care,Children′s Hospital of Capital Institute of Pediatrics,Beijing 100020,China
  • Received:2019-10-22 Revised:2020-02-06 Online:2020-12-10 Published:2020-12-10
  • Contact: WANG Lin,E-mail:


李娜, 王琳, 金春华   

  1. 首都儿科研究所附属儿童医院保健科,北京 100020
  • 通讯作者: 王琳,
  • 作者简介:李娜(1979-),女,北京人,主治医师,学士学位,主要研究方向为儿童临床与保健,儿童的早期发展。

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.

Key words: hypophosphatemic rickets, genetic typing, research progress

摘要: 低血磷抗维生素D佝偻病(HR)又称家族性低磷血症或肾性低血磷性佝偻病,是一种以肾磷酸盐丢失、维生素D代谢及骨矿化障碍为特征的单基因遗传性疾病。根据疾病是否受FGF23因子调控,可将疾病大体分为FGF23依赖性HR和非FGF23依赖性HR两大类。目前已经发现多个明确与HR相关的致病基因,包括X-性连锁、常染色体显性、常染色体隐性。本文就低血磷抗维生素D佝偻病的遗传分型及研究进展进行综述。

关键词: 低血磷抗维生素D佝偻病, 遗传分型, 研究进展

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