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ENGLISH ABSTRACT
低磷性佝偻病/骨软化症诊治实践指南
中华医学会内分泌学分会
中国内分泌代谢病专科联盟
作者及单位信息
·
DOI： 10.3760/cma.j.cn311282-20240516-00198
Practice guideline on the diagnosis and treatment of hypophosphataemic rickets/osteomalacia
Chinese Society of Endocrinology
China Endocrinology and Metabolism Specialist Alliance
Wang Weiqing
Authors Info & Affiliations
Chinese Society of Endocrinology
China Endocrinology and Metabolism Specialist Alliance
Wang Weiqing
Department of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China
·
DOI： 10.3760/cma.j.cn311282-20240516-00198
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摘要

低磷性佝偻病/骨软化症是一类罕见疾病，累及多系统和多器官，具有较高的致残、致畸率，需要多学科共同诊治和管理。为提高低磷性佝偻病/骨软化症的诊治和管理水平，中华医学会内分泌学分会和中国内分泌代谢病专科联盟组织全国内分泌科、儿科、骨科等专家共同讨论制定该病诊治实践指南。

低血磷;佝偻病;骨软化症;指南
ABSTRACT

Hypophosphataemic rickets/osteomalacia is a rare disease that involves multiple systems and organs, leading to a high rate of disability and deformity. It requires a multidisciplinary approach for diagnosis and management. To improve management level of hypophosphataemic rickets/osteomalacia, Chinese Society of Endocrinology and China Endocrinology and Metabolism Specialist Alliance invited experts from departments of endocrinology, pediatrics, orthopedics to develop the practice guideline for the diagnosis and treatment of hypophosphataemic rickets/osteomalacia.

Hypophosphataemia;Rickets;Osteomalacia;Guideline
Wang Weiqing, Email: mocdef.3ab6116wgniqw Department of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China
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引用本文

中华医学会内分泌学分会,中国内分泌代谢病专科联盟. 低磷性佝偻病/骨软化症诊治实践指南[J]. 中华内分泌代谢杂志,2024,40(06)：462-469.

DOI:10.3760/cma.j.cn311282-20240516-00198

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一、前言
低磷性佝偻病/骨软化症是一组由于遗传性或获得性原因导致以低磷血症为主要特征的骨骼矿化障碍性疾病，具有较高的致残、致畸率。儿童期起病者称为佝偻病，成人期起病者称为骨软化症。该病为罕见病，已经被列入《中国第一批罕见病目录》第51号疾病。近年来，我国先后发布了《中国低血磷性佝偻病/骨软化症诊疗指南》《儿童X连锁低磷性佝偻病诊治专家共识》和《肿瘤性骨软化症临床管理共识》，为促进低磷性佝偻病/骨软化症的规范化诊疗起到重要作用 [ 1 , 2 , 3 ]。
随着对该类疾病的认知逐渐深入，我国也积累了临床研究和实践的数据。为进一步提高对该病的诊断水平，及时开展治疗，提高低磷性佝偻病/骨软化症患者的生活质量，中华医学会内分泌学分会和中国内分泌代谢病专科联盟牵头组织全国内分泌科、儿科、骨科等科室的专家，共同讨论和制定了该病的诊治实践指南。
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备注信息
A
王卫庆，Email： mocdef.3ab6116wgniqw 　通信作者单位：上海交通大学医学院附属瑞金医院内分泌代谢病科，上海　200025
B
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