先天性脊柱侧凸的病因诊断与治疗现状

Current status of etiological diagnosis and treatment of congenital scoliosis

先天性脊柱侧凸是由于胚胎时期体节发育异常导致的一种早发性脊柱侧凸,其畸形多严重且呈进展性,通常伴发其他系统的畸形(肾脏、心脏或椎管内畸形)。先天性脊柱侧凸病因尚不明确,目前认为可能为遗传因素与环境因素的共同作用。遗传因素方面,研究已发现单核苷酸多态性、基因拷贝数变异以及TBX6基因突变为先天性脊柱侧凸的重要致病因素。环境因素方面,孕期缺氧、酒精摄入、维生素缺乏等可能与先天性脊柱侧凸的发病相关。对于先天性脊柱侧凸的诊断,X线、CT以及MRI是常用的影像学检查手段。除了影像学检查之外,基因学检测(包括全外显子组测序以及全基因组测序)也越来越多地被用于早期诊断并帮助判断畸形的预后。先天性脊柱侧凸的治疗包括保守治疗和手术治疗。先天性脊柱侧凸多呈进展性,随访观察是监测畸形进展预后的重要手段。系列石膏、支具以及牵引可用于治疗轻、中度先天性脊柱侧凸,而对于重度先天性脊柱侧凸,需要进行外科干预。在选择术式时,需要考虑患者的年龄、生长潜力、畸形所处位置以及类型,常用的术式包括骨骺阻滞、半椎体切除或者截骨短节段融合术、高级别截骨矫形融合术、非融合手术以及融合与非融合的混合技术。

Congenital scoliosis(CS)is early-onset scoliosis caused by somitogenesis abnormality during the embryonic period.It is characterized by severe,rapidly progressing deformities,often accompanied with other organ malformations(e.g.,renal,cardiac,or intraspinal defects).CS is caused by numerous factors,including genetic factors and environmental factors.The genetic etiology involves single nucleotide polymorphisms(SNPs),copy number variants(CNVs),and TBX6 genetic mutation.The environment etiology is reported to be associated with multiple maternal exposure factors during pregnancy,such as hypoxia,alcohol,and vitamin deficiency.For the diagnosis of CS,traditional testing methods include X-ray,CT and MRI.Furthermore,the whole exome sequencing(WES)and whole genome sequencing(WGS)are increasingly being used for early diagnosis and prediction.The treatment of CS includes conservative and surgical methods.Most of CS deformity is progressive,and observation is a necessary and effective method to monitor it.Serial casting,brace and traction may be effective in treating moderate or mild CS.For patients with progressive,severe and rigid CS,surgical intervention is mandatory.Surgical procedures,including epiphysiodesis,hemivertebra resection or osteotomy with short fusion,high grade osteotomy with fusion,growth friendly techniques and hybrid techniques of fusion and fusionless techniques,can be chosen according to patient’s age and growth potential,the location and type of deformity.