软骨发育不全中的椎管狭窄和胸腰椎后凸  

Spinal Stenosis and Thoracolumbar Kyphosis in Achondroplasia

作　　者：刘福泽 王海 LIU Fuze;WANG Hai(Department of Orthopaedic Surgery,Beijing Key Laboratory for Genetic Research of Skeletal Deformity,Key Laboratory of Big Data for Spinal Deformities,Peking Union Medical College Hospital,Chinese Academy of 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院骨科,骨骼畸形遗传学研究北京市重点实验室,中国医学科学院脊柱畸形大数据研究与应用重点实验室,北京100730

出　　处：《罕见病研究》2023年第4期483-491,共9页Journal of Rare Diseases

基　　金：国家自然科学基金(82172450)。

摘　　要：软骨发育不全(ACH)是一种罕见的常染色体显性遗传病,由成纤维细胞生长因子受体-3(FGFR3)基因突变导致,表现为非匀称性的身材矮小。椎管狭窄和胸腰椎后凸(TLK)是ACH患者的两种常见表现。严重TLK会加重椎管狭窄,从而造成神经系统后遗症。因此,本文就ACH合并椎管狭窄和TLK的病理生理机制、临床特点、治疗等方面作汇总。最近,3种新的FGFR3靶向药物(伏索利肽、recifercept和英菲格拉替尼)已经完成或正在进行临床试验,其在预防软骨发育不全合并椎管狭窄和胸腰段后凸畸形的治疗中初步显示出一定的效果。Achondroplasia(ACH)is a rare autosomal-dominant genetic disease resulting from a mutation in the fibroblast growth factor receptor-3(FGFR3)gene.It is characterized by asymmetric short stature.Spinal stenosis and thoracolumbar kyphosis(TLK)are common findings in ACH patients.Severe TLK can exacerbate spinal stenosis,leading to neurological complications.This paper provides a brief review of the pathophysiological mechanisms,clinical characteristics,and treatments for spinal stenosis and TLK in ACH patients.Recently,three new drugs targeting FGFR3;vosoritide,recifercept,and infigratinib,have completed or are undergoing clinical trials.They have shown promising preliminary results in preventing spinal stenosis and TLK.

关 键 词：椎管狭窄 胸腰椎后凸 软骨发育不全 成纤维细胞生长因子受体-3 

分 类 号：R714.5[医药卫生—妇产科学] R726.8[医药卫生—临床医学]