软骨发育不全患者的肢体延长：一项国际调查的分析。

IF 3.5 2区医学 Q2 ENDOCRINOLOGY & METABOLISM

Bone Pub Date : 2025-03-16 DOI:10.1016/j.bone.2025.117462

Christoph Beger , Inês Alves , Patricia Carl-Innig , Marco Sessa , Klaus Mohnike , Moira S. Cheung

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引用次数: 0

摘要

背景：对于软骨发育不全患者，肢体延长手术是一个有争议的选择。本研究旨在评估软骨发育不全患者的多国队列中肢体延长的现实经验、结果和观点。方法：从2024年5月至7月，在16个国家以11种语言对肢体延长的经验和观点进行了横断面的国际在线调查。结果：在467名应答者（229名自我应答者，238名家长/照顾者）中，90名（19.3 %）报告接受了肢体延长（LL）手术。首次手术的平均年龄为10.5 岁（SD 4.5）。平均而言，受访者接受了3.7 （SD 2.9）次手术，导致女性增加14.5 cm (SD10.4)，最终成年身高为137.1 cm，男性为142.1 cm。在诸如开车、洗澡、梳头和如厕后擦拭等活动中，对那些同时进行了手臂和腿加长的患者有显著的改善（p ≤ 0.001）。在被调查者中，有23% %的人会推荐给其他人，28% %的人不会推荐LL。近一半的受访者（49% %）不确定是否推荐LL。结论：这是国际上最大的关于软骨发育不全的LL调查，结果突出了软骨发育不全个体及其家庭在观点和选择上的一些差异，为这种干预的结果提供了现实世界的证据。虽然报告了显着的功能改善，但推荐LL干预的受访者比例降低。研究结果强调，当考虑到软骨发育不全患者的肢体延长作为个人选择、生活经历、社会文化环境和临床选择时，存在一个三位一体。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Limb lengthening in individuals with achondroplasia: Analysis of an international survey

Background

Limb lengthening surgery is a contentious option for individuals with achondroplasia. This study aimed to assess real-world experiences, outcomes, and perspectives on limb lengthening in a multinational cohort of individuals with achondroplasia.

Methods

A cross-sectional, international online survey on limb lengthening experiences and perspectives was conducted in 11 languages across 16 countries from May until July 2024.

Results

Out of 467 responders (229 self-responders, 238 parents/caregivers), 90 (19.3 %) reported undergoing limb lengthening (LL) surgery. The mean age at first surgery was 10.5 years (SD 4.5). On average, respondents underwent 3.7 (SD 2.9) procedures, resulting in 14.5 cm (SD10.4) added and final adult height of 137.1 cm in females and 142.1 cm in males. Significant improvements were described in activities such as car driving, bathing, brushing hair, and wiping after toileting for those who underwent both arm and leg lengthening (p ≤ 0.001). Among respondents, 23 % would recommend the procedure to others and 28 % would not recommend LL. Nearly half of respondents (49 %) was uncertain about recommending LL.

Conclusions

This is the largest international survey on LL in achondroplasia with results highlighting some of the differences in perspectives and choices of the individual with achondroplasia and their families, providing real-world evidence of the outcomes of this intervention. While significant functional improvements were reported, a reduced percentage of respondents recommended LL intervention. The findings underscore the existence of a triad when considering limb lengthening in achondroplasia as individual choices and life experiences, socio-cultural environment and access to clinical options.

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来源期刊

Bone 医学-内分泌学与代谢

CiteScore

8.90

自引率

4.90%

发文量

264

审稿时长

30 days

期刊介绍： BONE is an interdisciplinary forum for the rapid publication of original articles and reviews on basic, translational, and clinical aspects of bone and mineral metabolism. The Journal also encourages submissions related to interactions of bone with other organ systems, including cartilage, endocrine, muscle, fat, neural, vascular, gastrointestinal, hematopoietic, and immune systems. Particular attention is placed on the application of experimental studies to clinical practice.