[The current review and prospects of the genetic study and clinical treatment of adolescent idiopathic scoliosis]

Zhonghua Wai Ke Za Zhi. 2018 Aug 1;56(8):578-582. doi: 10.3760/cma.j.issn.0529-5815.2018.08.005.
[Article in Chinese]

Abstract

This review mainly focused on the etiology and the surgical strategy for adolescent idiopathic scoliosis (AIS) treatment. Genome-wide association study on the etiology of AIS using samples from more than 5 000 patients and 6 000 normal controls showed two genes: LBX1-AS1 on 10q24.32 and TNIK on 3q26.2 highly related to AIS initiation and progression. Regarding the conservative treatment of AIS, bracing is the only well-documented effective non-operative management in the early stage of AIS. For the patients with Cobb angle smaller than 80°, balancing spine, saving fusion level and restoring thoracic kyphosis are the basic objectives in surgical management. For the severe cases, various osteotomy techniques are often needed. Adequate peri-operative management is important for severe cases, especially for the patients with respiratory failure and neurological deficits.

本文对青少年特发性脊柱侧凸(AIS)的病因学研究进展和手术治疗的前沿理念进行了梳理和阐述。AIS病因学研究方面,通过基因连锁分析和关联分析,目前已鉴定了10余个汉族人群AIS易感基因;通过对AIS患者和健康人群进行的全基因组关联研究,目前已定位了与汉族AIS发病相关的两个重要易感基因,即10q24.32的LBX1-AS1基因和3q26.2的TNIK基因。AIS临床治疗方面,支具治疗目前仍然是有效的非手术疗法,可以显著降低脊柱侧凸早期进展至手术阈值的风险;手术治疗已不仅仅停留在对Cobb角的纠正,而是同时强调对于肩平衡、胸椎后凸、去旋转的三维矫形以及对于重度脊柱侧凸的综合治疗;对于重度AIS患者,手术治疗则主要侧重于截骨矫形及围手术期综合治疗。.

Keywords: Genes; Scoliosis; Surgical procedures, operative.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Disease Progression
  • Genome-Wide Association Study*
  • Germinal Center Kinases
  • Homeodomain Proteins / genetics
  • Humans
  • Kyphosis
  • Protein Serine-Threonine Kinases / genetics
  • Scoliosis* / complications
  • Scoliosis* / genetics
  • Scoliosis* / surgery
  • Spine
  • Transcription Factors / genetics

Substances

  • Germinal Center Kinases
  • Homeodomain Proteins
  • LBX1 protein, human
  • Transcription Factors
  • Protein Serine-Threonine Kinases
  • TNIK protein, human