1型神经纤维瘤病性脊柱侧弯的诊疗现状  

The Diagnosis and Treatment of Scoliosis of Neurofibromatosis Type 1

作　　者：王维[1] 罗聪[1] WANG Wei;LUO Cong(First Orthopedic Ward,Children's Hospital Affiliated to Chongqing Medical University,Chongqing 400014,China)

机构地区：[1]重庆医科大学附属儿童医院骨科一病房,重庆400014

出　　处：《医学信息》2020年第9期39-43,共5页Journal of Medical Information

摘　　要：1型神经纤维瘤病(NF-1),也叫von Recklinghausen病,是一种常染色体显性遗传病,其特征是神经嵴细胞异常增殖,可累及神经组织、骨骼、软组织和皮肤等,也可伴发包括脊柱畸形、先天性胫骨假关节以及其他骨骼的弯曲或假关节等骨科疾病,其中脊柱侧弯最为常见。目前关于1型神经纤维瘤性脊柱侧弯的具体致病机制仍未明确,因此,对于该病的治疗方式不同于其他类型的脊柱侧弯,其治疗难度大,治疗效果欠佳。本文就1型神经纤维瘤性脊柱侧弯的发病机制、诊断、临床表现、治疗及并发症作一综述,以期为临床治疗提供参考依据。Neurofibromatosis type 1(NF-1), also known as von Recklinghausen disease, is an autosomal dominant genetic disease characterized by abnormal proliferation of neural crest cells that can affect nerve tissue, bone, soft tissue, and skin It can also be accompanied by orthopedic diseases including spinal deformities, congenital tibial pseudoarthrosis, and bending or pseudoarthrosis of other bones, among which scoliosis is the most common.The specific pathogenesis of neurofibromatosis scoliosis type 1 is still unclear.Therefore, the treatment of this disease is different from other types of scoliosis, and its treatment is difficult and the treatment effect is poor. This article reviews the pathogenesis, diagnosis, clinical manifestations,treatment, and complications of neurofibromatosis scoliosis type 1 in order to provide a reference for clinical treatment.

关 键 词：1型神经纤维瘤病 脊柱侧弯 神经纤维瘤素 

分 类 号：R730.264[医药卫生—肿瘤]