论文部分内容阅读
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 of Ⅰ, Ⅱ, Ⅲ and Ⅳ. Types Ⅰ through Ⅳ are caused by dominant mutations of COL1A1/COL1A2, while absent in type Ⅴ. As a specific phenotype with typical clinical manifestations and radiographic features, type Ⅴ has 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 type Ⅴ lies 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 type Ⅴ, the clinical manifestations and pathogenesis of this disease were reviewed.