Expert consensus on the diagnosis and treatment of X-linked dominant hypophosphatemic rickets

doi:10.19538/j.ek2022010601

Chinese Journal of Practical Pediatrics ›› 2022, Vol. 37 ›› Issue (1): 1-6.DOI: 10.19538/j.ek2022010601

Online:2022-01-06 Published:2022-02-18

X连锁显性遗传性低磷血症性佝偻病诊治专家共识

执　笔：陈　晶，吴　蔚，杨艳玲，王秀敏，邬玲仟，黄新文
制定专家（按姓氏汉语拼音顺序排序）：陈　晶（厦门大学附属妇女儿童医院儿科学系）；陈晓红（华中科技大学同济医学院附属武汉儿童医院内分泌遗传代谢科）；陈永前（兰州大学附属第二医院儿科）；崔岚巍（哈尔滨医科大学附属第一医院内分泌遗传代谢科）；巩纯秀（首都医科大学附属北京儿童医院内分泌遗传代谢科）；胡海利（合肥市妇幼保健院新生儿疾病筛查中心）；韩　蓓（南京医科大学附属儿童医院内分泌科）；韩连书（上海交通大学医学院附属新华医院内分泌遗传代谢科）；黄新文（浙江大学医学院附属儿童医院国家儿童健康与疾病临床医学研究中心遗传与代谢科）；黄小玲（广东省东莞市妇幼保健院儿科遗传代谢科）；孔元原（首都医科大学附属北京妇产医院新生儿疾病筛查中心）；蓝　丹（广西医科大学第一附属医院儿科）；牛婷婷（山东省妇幼保健院儿科）；孙　云（南京医科大学附属妇产医院遗传医学中心）；谢蔓芳（海南省妇幼保健院儿科）；吴　蔚（浙江大学医学院附属儿童医院国家儿童健康与疾病临床医学研究中心内分泌遗传代谢科）；王秀敏（上海交通大学医学院附属上海儿童医学中心）；邬玲仟（中南大学中国医学遗传学国家重点实验室儿科）；杨　莹（贵州省贵阳市妇幼保健院儿童内分泌遗传代谢科）；杨艳玲（北京大学第一医院儿科）；于　飞（华中科技大学同济医学院附属湖北省妇幼保健院儿童内分泌遗传代谢科）；张　进（复旦大学基础医学院代谢与分子医学教育部重点实验室）；张　杰（云南省第一人民医院儿科）；周文智（成都市妇女儿童中心医院康复科）；邹　琳（重庆医科大学附属儿童医院新生儿疾病筛查中心临床分子医学诊断中心）

通讯作者: 黄新文，电子信箱：6305022@zju.edu.cn
基金资助:
国家重点研发计划（2018YFC1002204，2017YFC1001700）；国家自然科学基金（82073560）

Abstract

Key words: X-linked dominant hypophosphatemic rickets, fibroblast growth factor 23（FGF23）, bone disease, expert consensus

关键词: X-连锁显性遗传性低磷血症性佝偻病, 成纤维细胞生长因子23（FGF23）, 骨病, 专家共识

Genetics and Metabolism Group, Child Disease and Health Care Branch of Chinese Maternal and Child Health Association, Department of Genetics and Metabolism, Rare Diseases Branch, Beijing Medical Association, Genetic Diseases Group, Birth Defects Prevention and Control Professional Committee, Chinese Preventive Medical Association. Expert consensus on the diagnosis and treatment of X-linked dominant hypophosphatemic rickets[J]. Chinese Journal of Practical Pediatrics, 2022, 37(1): 1-6.

中国妇幼保健协会儿童疾病和保健分会儿童遗传代谢疾病与保健学组, 北京医学会罕见病分会遗传代谢病学组, 中华预防医学会出生缺陷预防与控制专业委员会遗传病学组. X连锁显性遗传性低磷血症性佝偻病诊治专家共识[J]. 中国实用儿科杂志, 2022, 37(1): 1-6.

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