Chapurlat R D, Meunier P J
Department of Rheumatology and Bone Diseases, Hôpital E. Herriot, Lyon, France.
Baillieres Best Pract Res Clin Rheumatol. 2000 Jun;14(2):385-98. doi: 10.1053/berh.1999.0071.
Fibrous dysplasia of bone is a disease that can involve one or several bones and is characterized by bone deformities, pain and iterative fractures. Some patients can present with endocrine dysfunction (generally precocious puberty) and cutaneous café-au-lait spots. Some complications, such as nerve compression and malignant transformation, are uncommon. Many patients can, however, be asymptomatic. Diagnosis relies on X-ray examination and pathology. Prognosis is assessed by X-rays and markers of bone remodelling. Several breakthroughs in the understanding of the pathophysiology have been made in the past 10 years. It is now recognized that fibrous dysplasia is caused by a somatic activating mutation of the Gs alpha subunit of protein G, resulting in an increased cAMP concentration and thus in abnormalities of osteoblast differentiation, these osteoblasts producing abnormal bone. There is also an increase in interleukin-6-induced osteoclastic bone resorption, which is the rationale for treating these patients with bisphosphonates. In the past 10 years, the bisphosphonate pamidronate has been used by infusion for fibrous dysplasia (two courses per year), with good results with respect to pain and, in about 50% of patients, the refilling of osteolytic lesions.
骨纤维发育不良是一种可累及一块或多块骨骼的疾病，其特征为骨畸形、疼痛和反复骨折。部分患者可出现内分泌功能障碍（通常为性早熟）和皮肤咖啡斑。一些并发症，如神经受压和恶变，较为少见。然而，许多患者可能没有症状。诊断依靠X线检查和病理学检查。通过X线和骨重塑标志物评估预后。在过去10年里，对其病理生理学的认识有了一些突破。现在人们认识到，骨纤维发育不良是由G蛋白的Gsα亚基的体细胞激活突变引起的，导致环磷酸腺苷（cAMP）浓度升高，进而导致成骨细胞分化异常，这些成骨细胞产生异常骨。白细胞介素-6诱导的破骨细胞骨吸收也增加，这是用双膦酸盐治疗这些患者的理论依据。在过去10年里，双膦酸盐帕米膦酸钠已用于骨纤维发育不良的静脉输注治疗（每年两个疗程），在缓解疼痛方面效果良好，约50%的患者溶骨性病变得到填充。
