成骨不全症儿童的骨骼表型影像测量研究进展

Advances in imaging assessment of skeletal phenotype of children with osteogenesis imperfecta

成骨不全症(osteogenesis imperfecta,OI)是最常见的单基因遗传性骨病,以反复骨折、骨骼畸形和身材矮小为特点。准确定量评估骨骼表型对判断OI严重程度、制定治疗方案和预测预后有重要意义。目前常用OI表型评估方法,如X线检查、双能X射线吸收测量仪等,难以全面反映骨微结构和骨骼生物力学性能。近年来,多种新型影像测量技术,包括骨小梁评分、高分辨外周骨定量计算机体层成像、磁共振成像等,能够定量评估骨微结构、骨骼生物力学性能,有助于全面了解OI骨骼表型信息、预测骨折风险,值得关注及应用。

Osteogenesis imperfecta(OI)is the most common monogenic skeletal disorders,characterized by recurrent fractures,skeletal deformities,and short stature.Accurate and quantitative evaluation of skeletal phenotype is crucial for judging the severity,formulating treatment plans,and predicting prognosis of OI.Currently,the most common assessment methods,such as X-ray radiography and dual-energy X-ray absorptiometry,can not fully capture the properties of bone micro-architecture and biomechanism.Recently,a variety of new radiographic assessment techniques,including the trabecular bone score,high-resolution peripheral quantitative CT,and magnetic resonance imaging,can quantitatively evaluate bone micro-architecture and biomechanical properties,and provide comprehensive information about skeletal phenotypes and bone fracture risk of children with OI,which deserve further consideration and application.