CAJ | 학술논문

Paget骨病是一种病因不明的局限性骨代谢紊乱,特点是过度骨吸收,继之形成富含血管和结缔组织的异常骨质.较多患者存在SQSTMl基因突变,在无SQSTMl基因突变的患者中也陆续发现了4个新的相关基因:CSF1、OPTN、TNFRSF11A和TM7SF4.分子生物学方面的研究发现,患者血清白细胞介素-6、巨噬细胞-集落刺激因子、干扰素水平升高.目前药物治疗主要是双膦酸盐,国外首选唑来膦酸盐,4 mg或5 mg,静注,可有效缓解症状,获得约15个月的缓解期.
Paget골병시일충병인불명적국한성골대사문란,특점시과도골흡수,계지형성부함혈관화결체조직적이상골질.교다환자존재SQSTMl기인돌변,재무SQSTMl기인돌변적환자중야륙속발현료4개신적상관기인:CSF1、OPTN、TNFRSF11A화TM7SF4.분자생물학방면적연구발현,환자혈청백세포개소-6、거서세포-집락자격인자、간우소수평승고.목전약물치료주요시쌍련산염,국외수선서래련산염,4 mg혹5 mg,정주,가유효완해증상,획득약15개월적완해기.
Paget's disease of bone is a metabolic bone disease of enigmatic etiology in focal lesions.It's characterized by excessive bone resorption followed by abnormal new bone formation with abundant vascular and fibrous tissue. SQSTM 1 gene mutation exists in most patients, and other studies have identified some variants at CSFI, OPTN ,TNFRSFI 1A and TM7SF4 as genetic risk factors for Paget's disease of bone. The serum levels of interleukin-6 (IL-6), macrophages clony stimulating factor (M-CSF) and interferon have increased in patients with Paget's disease of bone. Bisphosphonates is the main therapeutic approach.Zoledronic acid 4 mg or 5 mg iv is the first choice, which can relieve the synptoms effectively and obtain a remission of 15 months.