Abstract
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. Key words: Paget's disease of bone; SQSTM1 ; Cytokine; Zoledronic acid
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