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青少年特发性脊柱侧凸:一种多因素疾病病因理论的综述。

Adolescent idiopathic scoliosis : a review of aetiological theories of a multifactorial disease.

机构信息

Royal Manchester Children's Hospital, Manchester, UK.

Salford Royal Hospital, Manchester, UK.

出版信息

Bone Joint J. 2022 Aug;104-B(8):915-921. doi: 10.1302/0301-620X.104B8.BJJ-2021-1638.R1.

DOI:10.1302/0301-620X.104B8.BJJ-2021-1638.R1
PMID:35909373
Abstract

Adolescent idiopathic scoliosis (AIS), defined by an age at presentation of 11 to 18 years, has a prevalence of 0.47% and accounts for approximately 90% of all cases of idiopathic scoliosis. Despite decades of research, the exact aetiology of AIS remains unknown. It is becoming evident that it is the result of a complex interplay of genetic, internal, and environmental factors. It has been hypothesized that genetic variants act as the initial trigger that allow epigenetic factors to propagate AIS, which could also explain the wide phenotypic variation in the presentation of the disorder. A better understanding of the underlying aetiological mechanisms could help to establish the diagnosis earlier and allow a more accurate prediction of deformity progression. This, in turn, would prompt imaging and therapeutic intervention at the appropriate time, thereby achieving the best clinical outcome for this group of patients. Cite this article:  2022;104-B(8):915-921.

摘要

青少年特发性脊柱侧凸(AIS)定义为发病年龄为 11 至 18 岁,其患病率为 0.47%,约占所有特发性脊柱侧凸病例的 90%。尽管经过数十年的研究,AIS 的确切病因仍不清楚。越来越明显的是,它是遗传、内部和环境因素复杂相互作用的结果。有人假设遗传变异作为最初的触发因素,使表观遗传因素传播 AIS,这也可以解释该疾病表现出广泛的表型变异。更好地了解潜在的病因机制可以帮助更早地建立诊断,并更准确地预测畸形进展。反过来,这将促使在适当的时间进行影像学和治疗干预,从而为这群患者取得最佳的临床结果。

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