Pediatric Scoliosis in Osteogenesis Imperfecta: From Genetic Mechanisms to Therapeutic Strategies.

IF 2.1 2区 医学 Q2 ORTHOPEDICS
Vladislav Muldiiarov, Keely Buesing, Maegen J Wallace
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引用次数: 0

Abstract

Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder characterized by increased bone fragility and a propensity for multiple fractures, often leading to various skeletal deformities. Spinal involvement, particularly the development of scoliosis, is one of the most serious clinical manifestations of OI, significantly impacting patients' quality of life. Scoliosis in OI is characterized by early onset and rapid progression, complicating its treatment and necessitating special attention. This review article consolidates the results of contemporary molecular-genetic studies on spinal deformities in children with OI and examines the risk factors for their progression. It provides an overview of existing methods for treating scoliotic deformities in OI, including surgical and conservative approaches, and discusses prospects for the implementation of new therapeutic strategies. The aim of the review is to enhance the understanding of the pathogenesis of spinal deformities in OI and to contribute to the development of more effective methods for their diagnosis and treatment.

成骨不完全性儿童脊柱侧凸:从遗传机制到治疗策略。
成骨不全症(Osteogenesis imperfecta, OI)是一种遗传性结缔组织疾病,其特征是骨质脆性增加和多发骨折倾向,常导致各种骨骼畸形。脊柱受累,特别是脊柱侧凸的发展,是成骨不全最严重的临床表现之一,严重影响患者的生活质量。成骨不全患者脊柱侧凸的特点是发病早、进展快,使其治疗复杂化,需要特别注意。这篇综述文章整合了当代对成骨不全儿童脊柱畸形的分子遗传学研究结果,并探讨了其进展的危险因素。它概述了治疗成骨不全症脊柱侧凸畸形的现有方法,包括手术和保守入路,并讨论了实施新治疗策略的前景。本文综述的目的是加强对成骨不全症脊柱畸形发病机制的了解,并有助于开发更有效的诊断和治疗方法。
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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来源期刊
Orthopaedic Surgery
Orthopaedic Surgery ORTHOPEDICS-
CiteScore
3.40
自引率
14.30%
发文量
374
审稿时长
20 weeks
期刊介绍: Orthopaedic Surgery (OS) is the official journal of the Chinese Orthopaedic Association, focusing on all aspects of orthopaedic technique and surgery. The journal publishes peer-reviewed articles in the following categories: Original Articles, Clinical Articles, Review Articles, Guidelines, Editorials, Commentaries, Surgical Techniques, Case Reports and Meeting Reports.
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