X-连锁低血磷性抗维生素D佝偻病基因突变研究进展

doi:10.11852/zgetbjzz2017-25-12-13

中国儿童保健杂志 ›› 2017, Vol. 25 ›› Issue (12): 1233-1235.DOI: 10.11852/zgetbjzz2017-25-12-13

X-连锁低血磷性抗维生素D佝偻病基因突变研究进展

李恬恬综述, 张立琴审校

青岛大学附属青岛妇女儿童医院,山东青岛 266034

收稿日期:2016-11-03 发布日期:2017-12-10 出版日期:2017-12-10
通讯作者: 张立琴,E-mail:qdzlq1968@163.com
作者简介:李恬恬(1989-),女,山东人,住院医师,医学硕士,主要从事儿科临床工作

Research progress on gene mutation in X-linked dominate hypophosphatemia rickets

LI Tian-tian, ZHANG Li-qin

Qingdao Women and Children Hospital Affiliated to Qingdao University,Qingdao,Shandong 266034,China

Received:2016-11-03 Online:2017-12-10 Published:2017-12-10
Contact: ZHANG Li-qin,E-mail:qdzlq1968@163.com

摘要/Abstract

摘要： 低血磷性抗维生素D佝偻病是一种以肾磷酸盐丢失、维生素D代谢及骨钙化异常为特征的可导致骨骼、牙齿等发育不良的遗传性佝偻病,主要以X-连锁显性遗传为主。本文就X-连锁低血磷性抗维生素D佝偻病PHEX基因突变进行综述,以期为佝偻病的基因研究提供依据。

关键词: 低血磷性抗维生素D佝偻病, X-连锁, 基因突变, PHEX基因

Abstract: Hypophosphatemic rickets is a hereditary rickets characterized by loss of renal phosphate,abnormalities of vitamin D metabolism and bone calcification.It can lead to bones dysplasia and teeth dysplasia.X-linked interdependent inheritance is the main genetic type.This paper reviews the PHEX gene mutation of X-linked hypophosphatemic anti-vitamin D rickets in order to provide the basis for gene research of rickets.

Key words: hypophosphatemic rickets, X linked dominant, gene mutation, PHEX genes

中图分类号:

R179

李恬恬, 张立琴. X-连锁低血磷性抗维生素D佝偻病基因突变研究进展[J]. 中国儿童保健杂志, 2017, 25(12): 1233-1235.

LI Tian-tian, ZHANG Li-qin. Research progress on gene mutation in X-linked dominate hypophosphatemia rickets[J]. journal1, 2017, 25(12): 1233-1235.

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https://manu41.magtech.com.cn/Jwk_zgetbjzz/CN/Y2017/V25/I12/1233

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X-连锁低血磷性抗维生素D佝偻病基因突变研究进展

Research progress on gene mutation in X-linked dominate hypophosphatemia rickets

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