骨硬化症研究进展

Progress of research on osteopetrosis

骨硬化症是一类以骨密度增高,破骨细胞吸收功能障碍为主要特点的遗传性骨病,根据临床表现和致病基因可分为常染色体显性遗传骨化症(ADO)、常染色体隐性遗传骨硬化症(ARO)和罕见X连锁遗传骨硬化症(XLO)。本文对该病的临床分型和致病基因做一综述。

Osteopetrosis is a rare congenital genetic disorder characterized by increased bone density mainly due to impaired bone resorption by osteoclasts .According to different clinical descriptions and pathogenic genes , it is classi-fied in three forms with autosomal dominant osteopetrosis （ ADO） , autosomal recessive osteopetrosis （ ARO） and a rare X-linked osteopetrosis （ XLO） .This review described the typical clinical features of different subtypes of osteopetrosis and the related updates of genetic studies .