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为英国国民医疗服务体系中患有杜氏肌营养不良症的儿童和青少年制定骨科护理管理指南。

Development of a guideline for orthopaedic management in the care of children and young people with Duchenne muscular dystrophy in the UK National Health Service.

作者信息

Henman Philip D, Turner Catherine, Aird James, Atherton William Guy, Campbell Donald, Carpenter Clare, Carsi Maria Belen, Dixon Melville, Giannakakis Nikolaos, Girdler-Hardy Thomas, Hulme Alison, James Meredith, Joseph Shuko, Kiely Nigel T, Ohly Kirsty, Porter Anna, Rad Darius, Reuben Emily, Walton Roger, Wong Sze Choong, Guglieri Michela

机构信息

Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK.

Faculty of Medical Sciences, John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle Upon Tyne, UK.

出版信息

J Child Orthop. 2025 Jun 24:18632521251348972. doi: 10.1177/18632521251348972.

DOI:10.1177/18632521251348972
PMID:40575436
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12187703/
Abstract

People living with the rare, genetic condition Duchenne muscular dystrophy have particular orthopaedic care needs that are not universally understood or implemented at sites across the UK, putting them at risk of not receiving the correct treatment. They may require orthopaedic management and intervention for contractures caused by their muscle weakness. Importantly, they are also at a high risk of fractures due to increased bone fragility as part of the nature of Duchenne muscular dystrophy but also resulting from reduced weight-bearing and from the long-term use of corticosteroids as standard of care. In addition, progressive skeletal muscle weakness increases the risk of falls that may cause fractures. DMD Care UK's orthopaedic working group has developed a guideline by consensus to inform all those involved in the orthopaedic management of people with Duchenne muscular dystrophy about the care needs and imperatives. This covers children and adults and focuses on fracture management and elective orthopaedic procedures. The guideline has been endorsed by the British Society for Children's Orthopaedic Surgery.

摘要

患有罕见的遗传性疾病杜氏肌营养不良症的患者有特殊的骨科护理需求,但在英国各地的医疗机构中,这些需求并未得到普遍理解和落实,这使他们面临无法获得正确治疗的风险。他们可能需要针对因肌肉无力导致的挛缩进行骨科管理和干预。重要的是,由于杜氏肌营养不良症本身的性质导致骨脆性增加,以及因负重减少和长期使用皮质类固醇作为标准治疗方法,他们还面临着较高的骨折风险。此外,进行性骨骼肌无力会增加跌倒导致骨折的风险。英国杜氏肌营养不良症护理组织的骨科工作组已通过共识制定了一项指南,以告知所有参与杜氏肌营养不良症患者骨科管理的人员其护理需求和要点。该指南涵盖儿童和成人,重点是骨折管理和选择性骨科手术。该指南已得到英国儿童骨科外科学会的认可。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/833c/12332355/bc57ea340b85/10.1177_18632521251348972-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/833c/12332355/bc57ea340b85/10.1177_18632521251348972-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/833c/12332355/bc57ea340b85/10.1177_18632521251348972-fig1.jpg

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本文引用的文献

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Management and Outcomes of Femur Fractures in Patients with Duchenne Muscular Dystrophy.杜氏肌营养不良症患者股骨骨折的管理与预后
J Pediatr Soc North Am. 2024 Feb 12;5(3):664. doi: 10.55275/JPOSNA-2023-664. eCollection 2023 Aug.
2
Pharmacological interventions for the management of anesthesia and sedation in patients with Duchenne muscular dystrophy: a systematic review and meta-analysis.杜氏肌营养不良症患者麻醉和镇静管理的药理学干预:系统评价和荟萃分析
Front Med (Lausanne). 2025 Jan 27;12:1497538. doi: 10.3389/fmed.2025.1497538. eCollection 2025.
3
Incidence of Radiologically Confirmed Fractures in Adults With Duchenne Muscular Dystrophy.
杜氏肌营养不良症成年患者中经放射学确诊的骨折发生率
Muscle Nerve. 2025 Apr;71(4):558-563. doi: 10.1002/mus.28355. Epub 2025 Jan 23.
4
Diagnostic Challenges in Malignant Hyperthermia and Anesthesia-Induced Rhabdomyolysis: A Case Study.恶性高热与麻醉诱导的横纹肌溶解症的诊断挑战:病例研究
Am J Case Rep. 2024 Dec 15;25:e946306. doi: 10.12659/AJCR.946306.
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Poor bone health in Duchenne muscular dystrophy: a multifactorial problem beyond corticosteroids and loss of ambulation.杜氏肌营养不良症患者的骨骼健康不佳:一个超越皮质类固醇和行走能力丧失的多因素问题。
Front Endocrinol (Lausanne). 2024 Nov 28;15:1398050. doi: 10.3389/fendo.2024.1398050. eCollection 2024.
6
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial.在 48 周内,Vamorolone 在患有杜氏肌营养不良症的男孩中的疗效和安全性:一项随机对照试验。
Neurology. 2024 Mar 12;102(5):e208112. doi: 10.1212/WNL.0000000000208112. Epub 2024 Feb 9.
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Development of respiratory care guidelines for Duchenne muscular dystrophy in the UK: key recommendations for clinical practice.英国制定杜氏肌营养不良症呼吸护理指南:临床实践的关键建议。
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