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

作　　者：刘家怡 李梅 LIU Jia-yi;LI Mei(Department of Endocrinology,Key Laboratory of Endocrinology of National Health Commission,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、北京协和医学院、北京协和医院内分泌科,国家卫生健康委员会内分泌重点实验室,北京100730

出　　处：《中华骨质疏松和骨矿盐疾病杂志》2024年第3期266-271,共6页Chinese Journal Of Osteoporosis And Bone Mineral Research

基　　金：国家重点研发计划(2021YFC2501700);中央高水平医院临床科研业务费资助(2022-PUMCH-D-006,2022-PUMCH-B-014)。

摘　　要：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.

关 键 词：成骨不全 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 

分 类 号：R589.5[医药卫生—内分泌]