骨纤维异常增殖症的发病机制及药物治疗  

Pathogenesis and pharmacological treatment of fibrous dysplasia

作　　者：王文博[1] 王鸥[1] 

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卫生部内分泌重点实验室,北京100730

出　　处：《中华骨质疏松和骨矿盐疾病杂志》2014年第4期350-356,共7页Chinese Journal Of Osteoporosis And Bone Mineral Research

基　　金：国家自然科学基金青年基金(81100559)

摘　　要：骨纤维异常增殖症(FD)是由G蛋白ɑ亚基基因突变引起的一种代谢性骨病。成骨细胞分化异常及破骨细胞活性增强的双重因素参与FD发病机制,少数患者伴低磷性骨软化症,加重FD骨骼病变。近年基于发病机制的药物治疗逐渐受到重视,其中骨吸收抑制剂——双膦酸盐和抗RANKL单克隆抗体已在部分临床研究中取得良好疗效,但仍需进一步研究证实。另外,钙剂、维生素D可作为FD患者的补充治疗,合并低磷血症患者可酌情补充磷制剂。Fibrous dysplasia of bone is a skeletal disease caused by somatic activating mutations of the Gsa.The mutation results in osteoblastic differentiation defects and increased bone resorption. Hypophosphatemic osteomalacia has been reported as a rare complication of FD. Patients with polyostotic fibrous dysplasia often have renal phosphate wasting. New insight into the molecular mechanisms has led to the use of antiresorptive agent for treatment of FD. Favorable outcomes have been observed in some open studies using intravenous or oral bisphosphonates and denosumab. Further clinical evaluation is needed. Calcium,vitamin D and phosphorus supplements are probably helpful in patients with FD to limit osteomalacic and hyperparathyroid changes,which are likely to influence the severity of FD.

关 键 词：骨纤维异常增殖症 Gsa基因突变 环磷酸腺苷 白细胞介素-6 成纤维细胞生长因子23 双膦酸盐 狄诺塞麦 

分 类 号：R681[医药卫生—骨科学]