脊髓性肌萎缩症伴脊柱侧凸临床诊疗的研究进展  

Research progress on scoliosis in patients with spinal muscular atrophy

作　　者：王振 冯尔维 孙佩宇 王树杰[1] 张秀华[3] 马璐璐[3] 陈唯韫[3] 沈建雄[1] WANG Zhen;FENG Erwei;SUN Peiyu;WANG Shujie;ZHANG Xiuhua;MA Lulu;CHEN Weiyun;SHEN Jianxiong(Department of Orthopaedics,Peking Union Medical College Hospital,Chinese Academy Medical Sciences&Peking Union Medical College,Beijing 100730;Department of Orthopaedics,Beijing Traditional Chinese Medicine Hospital Affiliated to Capital Medical University,Beijing 100010;Department of Anesthesiology,Peking Union Medical College Hospital,Chinese Academy Medical Sciences&Peking Union Medical College,Beijing 100730,China)

机构地区：[1]中国医学科学院,北京协和医学院,北京协和医院骨科,北京100730 [2]首都医科大学附属北京中医医院骨科,北京100010 [3]中国医学科学院,北京协和医学院,北京协和医院麻醉科,北京100730

出　　处：《中华骨与关节外科杂志》2022年第11期831-837,共7页Chinese Journal of Bone and Joint Surgery

基　　金：国家自然科学基金(81974354,81772424)

摘　　要：脊髓性肌萎缩症(SMA)患者脊柱侧凸患病率约达60%。除脊柱侧凸外,SMA可伴胸廓畸形、骨盆倾斜等其他骨骼畸形,严重影响患者生活质量。SMA患者脊柱侧凸发病早、进展快,大部分于青春期中晚期呈重度、僵硬性脊柱侧凸。此外,SMA患者伴发的肺功能障碍进一步增加了脊柱侧凸的治疗难度。本文从SMA遗传学病因、流行病学、临床表现及相关分型、脊柱侧凸自然史、脊柱侧凸的治疗等方面进行综述,以期为SMA患者脊柱侧凸的诊断及治疗提供帮助。The prevalence of scoliosis in spinal muscular atrophy(SMA)patients is about 60%.In addition to scoliosis,SMA may also contribute to other skeletal abnormalities,such as thoracic deformity,pelvic obliquity and et al,which seriously affect patients’quality of life.Scoliosis in SMA patients is characterized by early onset and rapid progress.Most cases exhibits severe rigid scoliosis at late adolescence.Moreover,pulmonary dysfunction in SMA patients further increases the difficulty for the management of scoliosis.This article aims to review the existing literatures from the aspects of genetic cause,epidemiology,clinical manifestations and classification,natural history of scoliosis and the treatment of scoliosis.

关 键 词：脊髓性肌萎缩症 脊柱侧凸 手术治疗 肺功能 

分 类 号：R682[医药卫生—骨科学]