成人石骨症股骨多次骨折:1例报告和综述

Multiple femoral fractures in adult osteopetrosis: a case report and review

摘要:

石骨症是一种以破骨细胞功能缺陷为特征的疾病，常为家族性，绝大多数病例为隐性遗传。本病特征为钙化的软骨持久存在，引起广泛的骨质硬化，重者髓腔封闭、血小板降低并严重贫血。由于患者骨骼脆性大，柔韧性差，易发生骨折。本文报道了 1 例石骨症股骨干骨折术后再骨折的患者，采用青少年型股骨髓内钉、重建锁定钢板联合骨形态发生蛋白-7 及翻修治疗，长期随访效果良好。此外，本文对相关文献进行了综述。

Abstract:

Osteopetrosis is a disease characterized by osteoclast dysfunction, which is often familial, and most cases are recessive inheritance. The patients present persistent existence of calcified cartilage, which leads to extensive sclerosis, and in severe cases, the medullary cavity is closed, combined with thrombocytopenia and severe anemia. Because of the brittleness and poor flexibility of the bones, the patients are prone to occur fractures. This paper reports a case of osteopetrosis with femoral shaft re-fracture after primary open reduction and internal fixation, who was revised with adolescent femoral intramedullary nail, buttress locking plate and bone morphogenetic protein7, and achieved good outcome. In addition, relative literatures were reviewed in this article.