进行性骨化性纤维发育不良的临床特点及诊治  

Clinical Features,Diagnosis and Management of Fibrodysplasia Ossificans Progressiva

作　　者：赵俊铎 沈建雄 ZHAO Junduo;SHEN Jianxiong(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501-508,共8页Journal of Rare Diseases

摘　　要：进行性骨化性纤维发育不良(FOP)是一类罕见的以进行性的异位骨化为特点的先天性疾病。该病造成患者严重运动障碍,同时累及全身多系统。其发病率相对低,临床医师对FOP的认识不完全,导致误行有创操作或手术治疗,造成异位骨化进展。为增强对疾病的认识,本文就FOP的流行病学、病理机制、临床特征及诊断与治疗进行综述。Fibrodysplasia ossificans progressiva(FOP)is a rare congenital disease characterized by progressive heterotopic ossification,causing severe immobility with multi-system involvement.The relatively low incidence rate and incomplete knowledge among clinicians of the disease often result in misuse of invasive pro-cedures or surgical treatment,leading to the progression of heterotopic ossification.To promote the knowledge of FOP,this article presents a comprehensive review involving epidemiology,pathological mechanisms,clinical features,diagnosis,and management of the FOP.

关 键 词：进行性骨化性纤维发育不良 异位骨化 罕见病 

分 类 号：R58[医药卫生—内分泌] R68[医药卫生—内科学]