成骨不全症诊断与治疗的研究进展

Progress in diagnosis and treatment of osteogenesis imperfecta

成骨不全症(OI)是一种由于骨基质合成障碍和内稳态紊乱所致的骨骼脆性增加、反复骨折和进行性骨畸形为特征的遗传性结缔组织疾病,根据临床症状分为SillenceⅠ~Ⅴ型。OI发病与Ⅰ型胶原编码基因及其代谢相关基因突变有关,其遗传方式包括常染色体显性遗传、常染色体隐性遗传和X染色体连锁遗传。OI所致的心肺并发症是OI死亡的常见原因,OI的治疗需多学科的合作。文章对OI的诊断与治疗进展进行综述。

Osteogenesis imperfecta(OI) is a hereditary connective tissue disease characterized by increased bone fragility,repeated fractures and progressive bone deformities caused by disorders of bone matrix synthesis and homeostasis,which can be divided into Sillence IV type.OI inheritance includes autosomal dominant inheritance,autosomal recessive inheritance and X chromosome linkage inheritance.Cardiac and pulmonary complications caused by OI are the common causes of death in01.The treatment of 01 requires multidisciplinary cooperation.