中国实用儿科杂志

中国实用儿科杂志 ›› 2022, Vol. 37 ›› Issue (8): 588-595.DOI: 10.19538/j.ek2022080606

• “一切为了人民健康———我们这十年”专栏·专题笔谈 • 上一篇    下一篇

软骨发育不全的指南变迁与多学科诊疗建议

  

  1. 上海交通大学医学院附属新华医院儿内分泌/遗传科，上海  200092
  • 出版日期:2022-08-06 发布日期:2022-08-31
  • 通讯作者: 余永国，电子信箱：yuyongguo@shsmu.edu
  • 基金资助:
    国家重点研发计划（2019YFC1005100）

Changes in guidelines and recommendations for multidis-ciplinary diagnosis and treatment of achondroplasia

  1. Xinhua Hospital of Shanghai Affiliated to Shanghai Jiao Tong University of Medicine，Shanghai 200092，China
  • Online:2022-08-06 Published:2022-08-31

摘要： 软骨发育不全是最常见的骨骼发育不良，以短肢、大头畸形、面中部发育不良和三叉戟手为特征。软骨发育不全相关的潜在并发症包括下肢长骨弯曲、中耳功能障碍、阻塞性睡眠呼吸暂停，以及更罕见的颈髓压迫、脑积水和胸腰椎后凸。软骨发育不全的管理是多方面的，需要在整个生命过程中多个学科共同参与。该文重点介绍了国内外近年来发表的软骨发育不全患者治疗和护理方面的指南或共识，旨在为临床医疗提供指导，以帮助识别软骨发育不全疾病有发生严重后遗症的高风险患者、并在并发症出现之前进行干预。

关键词: 软骨发育不全, 指南, 多学科诊疗, 建议

Abstract: Achondroplasia is the most common skeletal dysplasia，which is characterized by short limbs，macrocephaly，midface hypoplasia，and trident configuration of the hands. Potential complications associated with achondroplasia include longbone arches of lower extremity， middle ear dysfunction， obstructive sleep apnea，and，more rarely，cervical cord compression，hydrocephalus，and thoracolumbar kyphosis. The management of achondroplasia is multifaceted and requires the involvement of multiple disciplines throughout the life course. This article focuses on the guidelines or consensus on the treatment and care of patients with achondroplasia published in recent years at home and abroad. The aim is to provide guidance for healthcare providers to help identify patients with achondroplasia who are at high risk for severe sequelae，and to carry out intervention before complications arise.

Key words: achondroplasia, guideline, multidisciplinary diagnosis and treatment, recommendation