《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

doi:10.12114/j.issn.1007-9572.2022.0589

中国全科医学 ›› 2023, Vol. 26 ›› Issue (10): 1164-1171.DOI: 10.12114/j.issn.1007-9572.2022.0589

所属专题：指南/共识最新文章合集

《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

孙文文¹^,², 刘晶², 孔德先²^,³, 张智敏²^,⁴, 马慧娟²^,⁵^,^*()

1．063210　河北省唐山市，华北理工大学研究生学院
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
4．050017　河北省石家庄市，河北医科大学研究生学院
5．050051　河北省石家庄市，河北省人民医院代谢病重点实验室

收稿日期:2022-08-11 修回日期:2022-11-01 出版日期:2023-04-05 发布日期:2022-08-23
通讯作者: 马慧娟
孙文文，刘晶，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.net]

作者贡献：孙文文参与文章撰写、文献查阅、文章设计；刘晶参与文献查阅，对文章内容进行批评性审阅及补充；孔德先参与文献查阅，对文章内容进行审阅；张智敏参与文献查阅，对文章内容进行审阅；马慧娟参与文章指导与设计，对文章内容进行批评性审阅及补充。

Interpretation on Key Points of International Consensus Statement on the Diagnosis, Multidisciplinary Management and Lifelong Care of Individuals with Achondroplasia

SUN Wenwen¹^,², LIU Jing², KONG Dexian²^,³, ZHANG Zhimin²^,⁴, MA Huijuan²^,⁵^,^*()

1. Graduate School, North China University of Science and Technology, Tangshan 063210, China
2. Endocrinology Department, Hebei General Hospital, Shijiazhuang 050051, China
3. Graduate School, Hebei North University, Zhangjiakou 075132, China
4. Graduate School, Hebei Medical University, Shijiazhuang 050017, China
5. Hebei Key Laboratory of Metabolic Diseases, Hebei General Hospital, Shijiazhuang 050051, China

Received:2022-08-11 Revised:2022-11-01 Published:2023-04-05 Online:2022-08-23
Contact: MA Huijuan
About author:
SUN W W, LIU J, KONG D X, 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): 1164-1171.

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摘要/Abstract

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

Abstract:

Achondroplasia is a rare disease leading to growth and developmental disorders in children, mainly manifested as skeletal dysplasia and disproportionate short stature, which can lead to respiratory abnormalities, hearing loss, spinal involvement, limb joint deformity and other problems, thus making patients encounter a variety of treatment and rehabilitation issues throughout their life, with greatly impaired quality of life. However, the clinical treatment and care pathways of achondroplasia are still not completely unified. To facilitate the standardization of clinical treatment of achondroplasia, the International Consensus Statement on the Diagnosis, Multidisciplinary Management and Lifelong Care of Individuals with Achondroplasia was developed by a group of international experts. We interpreted the key points of the consensus, mainly involving lifelong care and multidisciplinary clinical management, aiming to promote the standardization of care for individuals with 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, Consensus

孙文文,刘晶,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. DOI: 10.12114/j.issn.1007-9572.2022.0589.
SUN Wenwen,LIU Jing,KONG Dexian, 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): 1164-1171. DOI: 10.12114/j.issn.1007-9572.2022.0589.

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《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

Interpretation on Key Points of International Consensus Statement on the Diagnosis, Multidisciplinary Management and Lifelong Care of Individuals with Achondroplasia

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