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[成骨不全症:一项多学科挑战]

[Osteogenesis imperfecta : A multidisciplinary challenge].

作者信息

Mindler Gabriel T, Ganger Rudolf, Stauffer Alexandra, Marhofer Peter, Raimann Adalbert

机构信息

Abteilung für Kinderorthopädie, Orthopädisches Spital Speising, Speisinger Str. 109, 1130, Wien, Österreich.

Vienna Bone and Growth Center, Wien, Österreich.

出版信息

Orthopadie (Heidelb). 2022 Jul;51(7):595-606. doi: 10.1007/s00132-022-04260-7. Epub 2022 May 25.

DOI:10.1007/s00132-022-04260-7
PMID:35776152
Abstract

Osteogenesis imperfecta (OI) describes a group of rare diseases which are associated with an increased tendency to bone fractures. In addition to the main symptom of fractures, OI is characterized by a variety of pediatric, pediatric orthopedic and anesthesiological challenges. The multidisciplinary expertise is mostly concentrated at specialized centers. The current treatment concepts aim at minimizing the fracture rate, prevention and treatment of deformities, pain reduction and improved mobility. In addition to pharmacotherapy, conservative and surgical measures are also applied. Scheduled interventions on the extremities are one of the most commonly performed operations in children with OI. Various intramedullary nailing techniques are available. This article addresses the important aspects of multidisciplinary care of children with OI concerning the treatment of the lower extremities.

摘要

成骨不全症(OI)是一组罕见疾病,与骨折倾向增加有关。除了骨折这一主要症状外,成骨不全症还具有多种儿科、小儿骨科和麻醉方面的挑战。多学科专业知识大多集中在专门的中心。目前的治疗理念旨在将骨折率降至最低、预防和治疗畸形、减轻疼痛并改善活动能力。除了药物治疗外,还采用保守和手术措施。对四肢进行定期干预是成骨不全症患儿最常进行的手术之一。有多种髓内钉技术可供选择。本文讨论了成骨不全症患儿多学科护理中有关下肢治疗的重要方面。

相似文献

1
[Osteogenesis imperfecta : A multidisciplinary challenge].[成骨不全症:一项多学科挑战]
Orthopadie (Heidelb). 2022 Jul;51(7):595-606. doi: 10.1007/s00132-022-04260-7. Epub 2022 May 25.
2
[Role of an interdisciplinary approach in the healing of long bone fractures in patients with osteogenesis imperfecta].[跨学科方法在成骨不全患者长骨骨折愈合中的作用]
Acta Chir Orthop Traumatol Cech. 2008 Jun;75(3):185-9.
3
Osteogenesis imperfecta: practical treatment guidelines.成骨不全症:实用治疗指南。
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Intramedullary nailing with supplemental plate and screw fixation of long bones of patients with osteogenesis imperfecta: operative technique and preliminary results.补充钢板和螺钉固定治疗成骨不全患者长骨的髓内钉固定术:手术技术及初步结果
J Pediatr Orthop B. 2018 Jul;27(4):344-349. doi: 10.1097/BPB.0000000000000405.
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Recent progress in diagnosis and treatment of osteogenesis imperfecta.成骨不全症诊断与治疗的最新进展
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Osteogenesis imperfecta in childhood: impairment and disability. A prospective study with 4-year follow-up.儿童成骨不全症:损伤与残疾。一项为期4年随访的前瞻性研究。
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Elastic intramedullary nailing of the femur fracture in patients affected by osteogenesis imperfecta type 3: Indications, limits and pitfalls.3 型成骨不全症患者股骨骨折的弹性髓内钉治疗:适应证、局限性和陷阱。
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Mid-term Results of Femoral and Tibial Osteotomies and Fassier-Duval Nailing in Children With Osteogenesis Imperfecta.成骨不全患儿股骨和胫骨截骨术及法西耶-杜瓦尔髓内钉固定的中期结果
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Management of lower limb deformities in children with osteogenesis imperfecta.儿童成骨不全症下肢畸形的治疗。
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Osteogenesis Imperfecta: A Pediatric Orthopedic Perspective.成骨不全症:小儿骨科视角
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引用本文的文献

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Diagnostic Challenges in Bone Fragility: Osteogenesis Imperfecta Case Series.骨脆性的诊断挑战:成骨不全病例系列
Biomedicines. 2025 Apr 3;13(4):865. doi: 10.3390/biomedicines13040865.

本文引用的文献

1
Does the Skeletal Phenotype of Osteogenesis Imperfecta Differ for Patients With Non-COL1A1/2 Mutations? A Retrospective Study in 113 Patients.成骨不全症的非 COL1A1/2 基因突变患者的骨骼表型是否不同?113 例患者的回顾性研究。
J Pediatr Orthop. 2022;42(5):e507-e514. doi: 10.1097/BPO.0000000000002116.
2
Pain experiences of adults with osteogenesis imperfecta: An integrative review.成骨不全症成人患者的疼痛体验:一项综合综述。
Can J Pain. 2018 Jan 30;2(1):9-20. doi: 10.1080/24740527.2017.1422115. eCollection 2018.
3
Eat, breathe, sleep with Osteogenesis Imperfecta.
与成骨不全症相伴,吃、呼吸、睡。
Orphanet J Rare Dis. 2021 Oct 18;16(1):435. doi: 10.1186/s13023-021-02058-y.
4
Interlocking Fixation in Fassier-Duval Rods: Performance and Success Factors.交错固定在 Fassier-Duval 杆中:性能和成功因素。
J Pediatr Orthop. 2021 Sep 1;41(8):525-529. doi: 10.1097/BPO.0000000000001883.
5
A roadmap to surgery in osteogenesis imperfecta: results of an international collaboration of patient organizations and interdisciplinary care teams.成骨不全症手术治疗路线图:患者组织和跨学科护理团队国际合作的结果。
Acta Orthop. 2021 Oct;92(5):608-614. doi: 10.1080/17453674.2021.1941628. Epub 2021 Jun 28.
6
Histopathology of osteogenesis imperfecta bone. Supramolecular assessment of cells and matrices in the context of woven and lamellar bone formation using light, polarization and ultrastructural microscopy.成骨不全症骨的组织病理学。使用光学、偏振和超微结构显微镜,在编织骨和板层骨形成的背景下对细胞和基质进行超分子评估。
Bone Rep. 2020 Dec 1;14:100734. doi: 10.1016/j.bonr.2020.100734. eCollection 2021 Jun.
7
Osteogenesis Imperfecta-Who Needs Rodding Surgery?成骨不全症——谁需要罗氏杆手术?
Curr Osteoporos Rep. 2021 Jun;19(3):264-270. doi: 10.1007/s11914-021-00665-z. Epub 2021 Mar 1.
8
Problems, Complications, and Factors Predisposing to Failure of Fassier-Duval Rodding in Children With Osteogenesis Imperfecta: A Double-center Study.成骨不全症患儿 Fassier-Duval rods 内固定失败的问题、并发症及相关因素:一项双中心研究。
J Pediatr Orthop. 2021 Apr 1;41(4):e347-e352. doi: 10.1097/BPO.0000000000001763.
9
Management of Osteogenesis Imperfecta: A Multidisciplinary Comprehensive Approach.成骨不全症的管理:多学科综合方法。
Clin Orthop Surg. 2020 Dec;12(4):417-429. doi: 10.4055/cios20060. Epub 2020 Nov 18.
10
Does Whole-Body Vibration Treatment Make Children's Bones Stronger?全身振动治疗能使儿童的骨骼更强壮吗?
Curr Osteoporos Rep. 2020 Oct;18(5):471-479. doi: 10.1007/s11914-020-00608-0.