Chinese General Practice.1164http:/he.chinagpnet E-mailzgqkyx@chinagp.net.cnApril 2023.Val.26 No.10。指南解读·《关于软骨发育不全患者的诊断、多学科管理和终身护理的国际共识声明》要点解读扫描二维码孙文文1.2，刘晶2，孔德先23，张智敏24，马慧娟25”查看原文【摘要】软骨发育不全是导致儿童生长发育障碍的一类罕见疾病，主要表现为骨骼发育不良及不成比例的身材矮小，可导致呼吸异常、听力受损、脊柱受累、四肢关节畸形等多种问题，从而使患者一生中面临各种治疗、康复等问题，极大地影响了患者的生活质量。然而目前软骨发育不全的临床治疗和护理路径并未完全统一，为了促进该病临床治疗方案的标准化，国际专家小组提出了《关于软骨发育不全患者的诊断、多学科管理和终身护理的国际共识声明》。本文就该共识针对患者整个生命周期的管理及可能涉及的临床问题的多学科管理进行了要点解读，以促进该病的规范化治疗、临床结局优化，提高患者生活质量，降低病死率。【关键词】软骨发育不全诊断：管理；终身护理：共识【中图分类号】R681.3【文献标识码】AD0L:10.121145.issn.1007-9572.2022.0589孙文文，刘品，孔德先，等.《关于软骨发育不全患者的诊断、多学科管理和终身护理的国际共识声明》要点解读[J]!中国全科医学，2023,26(10)：1164-1171.[www.chinagp.nt]SUN WW,LIU J,KONG DX,et al.Interpretation on key points of International Consensus Statement on the Diagnosis,Multidisciplinary Management and Lifelong Care of Individuals with Achondroplasia [J].Chinese General Practice,2023,26(10):1164-1171Interpretation on Key Points of International Consensus Statement on the Diagnosis,Multidisciplinary Managementand Lifelong Care of Individuals with Achondroplasia SUN Wenwen'2,LIU Jing,KONG Dexian2.3,ZHANG Zhimin24MA Hujuan1.Graduate School,North China University of Science and Technology,Tangshan 063210,China2.Endocrinology Department,Hebei General Hospital,Shijazhuang 050051,China3.Graduate School,Hebei North Unirersity,Zhangjiakou 075132,China4.Graduate School,Hebei Medical University,Shijiazhuang 050017,China5.Hebei Key Laboratory of Metabolic Diseases,Hebei General Hospital,Shijiazhuang 050051,ChinaCorresponding author:MA Huijuan,Chiefphysician/Professor/Doctoral supervisor;E-mail:huijuanma76@163.com[Abstract Achondroplasia is a rare disease leading to growth and developmental disorders in children,mainlymanifested as skeletal dysplasia and disproportionate short stature,which can lead to respiratory abnormalities,hearingloss,spinal involvement,limb joint deformity and other problems,thus making patients encounter a variety of treatment andrehabilitation issues throughout their life,with greatly impaired quality of life.However,the clinical treatment and care pathwaysof achondroplasia are still not completely unified.To facilitate the standardization of clinical treatment of achondroplasia,the Intemational Consensus Statement on the Diagnosis,Multidisciplinary Management and Lifelong Care of Individuals withAchondroplasia was developed by a group of international experts.We interpreted the key points of the consensus,mainlyinvolving lifelong care and multidisciplinary clinical management,aiming to promote the standardization of care for individualswith achondroplasia in order to improve their clinical outcomes and quality of life as well as reduce their mortality.[Key words Achondroplasia;Diagnosis;Management;Lifelong care;Consensus1.063210河北省唐山市，华北理工大学研究生学院软骨发有不全(ACH)是最常见的骨酪发有不良2.050051河北省石家庄市，河北省人民医院内分泌科3.075132河北省张家口市，河北北方学院研究生学院疾病，影响全球近36万人【]，主要表现为骨酪发育4.050017河北省石家庄市，河北医科大学研究生学院不良及不成比例的身材矮小，可导致呼吸异常、听力5.050051河北省石家庄市，河北省人民医院代谢病重点实验室”通信作者：马慧娟，主任医师/教授/博士生导师：受损、脊柱受累、四肢关节畸形等
