儿童低磷性佝偻病的诊治新进展

doi:10.11852/zgetbjzz2020-1413

中国儿童保健杂志 ›› 2021, Vol. 29 ›› Issue (11): 1213-1217.DOI: 10.11852/zgetbjzz2020-1413

儿童低磷性佝偻病的诊治新进展

徐钰艳, 朱柳燕, 邵洁

浙江大学附属儿童医院儿童保健科,浙江杭州 310000

收稿日期:2020-07-21 修回日期:2020-11-16 发布日期:2021-11-05 出版日期:2021-11-10
通讯作者: 邵洁,E-mail:shaojie@zju.edu.cn
作者简介:徐钰艳(1995-),女,浙江人,硕士研究生在读,研究方向为儿童保健。
基金资助:
国家重点研发计划课题(2019YFC0840702)

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

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

Department of Child Health Care,Children′s Hospital Affiliated to Zhejiang University,Hangzhou,Zhejiang 310000,China

Received:2020-07-21 Revised:2020-11-16 Online:2021-11-10 Published:2021-11-05
Contact: SHAO Jie,E-mail:shaojie@zju.edu.cn

摘要/Abstract

摘要： 低磷性佝偻病(HR)又称家族性低磷血症,是以低磷血症及肾脏磷酸盐丢失为特征,主要表现为骨矿化障碍的遗传性疾病。它包括一组表型相似但基因型、遗传模式和病因不同的疾病,最常见的HR是X连锁显性低磷血症佝偻病(XLH)。不常见的HR可由常染色体显性或隐性遗传等原因引起。成纤维细胞生长因子23(FGF23)基因的激活突变和调控FGF-23基因的失活突变已被确认,并被证实与这些紊乱的发病机制有关。本文就HR的病理生理、发病机制、临床表现、诊断和治疗等方面作一综述,为佝偻病的鉴别和精准诊治提供参考和指导。

关键词: 低磷性佝偻病, 成纤维细胞生长因子23, PHEX基因, 儿童

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

中图分类号:

R725.9

徐钰艳, 朱柳燕, 邵洁. 儿童低磷性佝偻病的诊治新进展[J]. 中国儿童保健杂志, 2021, 29(11): 1213-1217.

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.

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儿童低磷性佝偻病的诊治新进展

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

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