骨纤维结构不良的发病机制及治疗进展

The pathogenesis and treatment progress of fibrous dysplasia

骨纤维结构不良 (fibrous dysplasia,FD) 是一种罕见的、基因相关的、不可遗传的良性肿瘤病变,国内发病率为 10~30 / 100 万,约占良性肿瘤的 5%,发病人群以儿童及青少年多见。最早于 1988 年被 Ruth Hardoff 等报道,其特点是骨髓被未成熟的骨小梁和结缔组织所取代。FD 可表现为单骨型骨纤维异常增殖症 (70%~80%)、多骨型骨纤维异常增殖症 (20%~30%)。

Fibrous dysplasia is a congenital,rare and non-hereditary benign tumor with the potential to transform into malignancy.The etiology of fibrous dysplasia has been linked to an activating mutation in the gene that encodes the α subunit of stimulatory G protein (Gsα).Normal bone tissues are replaced by disordered and immature fibrous tissues,which is caused by the failure of original bone remodeling and immature matrix mineralization under mechanical stress.FD can be diagnosed by symptoms,signs and radiographic results.Most of patients commonly are asymptomatic despite those with severe lesions have local pain,deformity or pathological fracture.The purpose of treatment is to relieve clinical symptoms and prevent complications.Conservative treatment includes bisphosphonate and desuzumab,while surgical treatment includes curettage,bone grafting,varus realignment and internal fixation.