【摘要】 成骨不全(osteogenesis imperfecta, OI)是一种罕见的遗传异质性骨骼疾病，主要特征为反复骨折和进行性骨骼畸形，该疾病具有多种遗传模式，致病基因众多，致病机制复杂，既往的疾病分型缺乏条理与科学依据，适用性差。本文对OI的致病机制进行归纳、总结与梳理，分别从Ⅰ型胶原蛋白缺陷(合成缺陷、加工缺陷、翻译后修饰缺陷、折叠和交联缺陷)、骨骼矿化障碍、成骨细胞分化和功能缺陷等角度汇总分析OI的分子致病机制，同时阐述了最近提出的几个新的未分型的OI致病基因及其致病机制，以期为OI的分型提供科学依据。更多还原

【Abstract】 Osteogenesis imperfecta(OI) is a rare genetically heterogeneous skeletal disease characterized by recurrent fractures and progressive skeletal deformities, which has multiple genetic patterns, numerous causative genes, and complex pathogenic mechanisms. Previous disease classification was unmethodical, lack of scientific evidence, and poor practicality. In this review, we summarize and sort out the pathogenic mechanisms of OI, and analyze the molecular pathogenic mechanisms of OI from the aspects of type Ⅰ collagen defects(synthesis defects, processing defects, post-translational modification defects, folding and cross-linking defects),bone mineralization disorders, osteoblast differentiation, and functional defects respectively, and also elaborate several new untyped OI pathogenic genes recently proposed and their pathogenic mechanisms, in order to provide a scientific basis for the classification of OI.更多还原