Ⅴ型成骨不全的研究进展  

Research advances of osteogenesis imperfecta typeⅤ

作　　者：官士珍 白雪[1] 王毅[1] Guan Shizhen;Bai Xue;Wang Yi(Department of Laboratory Medicine,Tianjin Hospital,Tianjin 300211,China)

机构地区：[1]天津市天津医院检验科,300211

出　　处：《中华小儿外科杂志》2020年第11期1046-1050,共5页Chinese Journal of Pediatric Surgery

基　　金：天津市卫生局科技基金(2013KZ072)。

摘　　要：成骨不全(osteogenesis imperfecta,OI)是一种以骨脆性增加为特征的疾病,由COL1A1/COL1A2基因突变引起,根据患儿临床体征和组织病理学特性可将其分为Ⅰ~Ⅳ型,但Ⅴ型OI患儿中未发现Ⅰ型胶原基因突变。Ⅴ型OI患儿具有OI的共同特征:如多次非暴力性骨折、身材矮小、骨骼畸形等,但蓝巩膜发生概率较小,大多没有牙质形成不全和听力障碍。影像学表现以尺桡骨和/或胫腓骨骨间膜钙化、桡骨头脱位、增生性骨痂为特征。致病突变位于干扰素诱导跨膜蛋白5(interferon-induced transmembrane protein 5,IFITM5)编码基因的5'-非翻译区(5'-UTR),一个碱基C转换成T(c.-14C>T)。IFITM5基因在OI发病中的作用机制,已成为研究热点。本文将从Ⅴ型OI的临床表现和发病机制方面予以综述,旨在提高人们对该病的认识及诊断。Osteogenesis imperfecta(OI)is a heterogeneous group of disorders characterized by intrinsic bone fragility.According to the Sillence classification scheme,OI is divided into four types ofⅠ,Ⅱ,ⅢandⅣ.TypesⅠthroughⅣare caused by dominant mutations of COL1A1/COL1A2,while absent in typeⅤ.As a specific phenotype with typical clinical manifestations and radiographic features,typeⅤhas the common features of multiple non-violent fracture,short stature and skeletal deformities,etc.Unlike other types,blue sclera,dentinogenesis imperfecta and hearing impairment are less common.Radiographic findings are characterized by calcification of forearm and/or tibiofibular interosseous membranes,dislocation of radial head and hyperplastic callus formation.The etiology of typeⅤlies in a heterozygous mutation(c.-14C>T)in 5'UTR of interferon-induced transmembrane protein 5(IFITM5)gene.The mechanism of IFITM5 gene in the pathogenesis of OI has become a research hotspot.For boosting the understanding and diagnosis of typeⅤ,the clinical manifestations and pathogenesis of this disease were reviewed.

关 键 词：成骨不全 基因突变 机制 

分 类 号：R726.8[医药卫生—儿科]