Chapurlat Roland D, Orcel Philippe
INSERM Research Unit 831, Université de Lyon, and National Reference Centre for Fibrous Dysplasia of Bone, Department of Orthopaedics, Rheumatology and Bone Diseases, Hôpital E Herriot, Lyon, France.
Best Pract Res Clin Rheumatol. 2008 Mar;22(1):55-69. doi: 10.1016/j.berh.2007.11.004.
Fibrous dysplasia of bone is a genetic, non-inheritable disease, characterized by bone pain, bone deformities and fracture, involving one or several bones. It is caused by mis-sense mutations occurring post-zygotically in the gene coding for the alpha-subunit of the stimulatory G-protein, Gs, in the guanine nucleotide binding, alpha stimulating (GNAS) complex locus in chromosome 20q13. This mutation results in osteoblastic differentiation defects, and bone resorption is often increased. The bone lesions may be associated with endocrine dysfunctions and café-au-lait spots; this is known as McCune-Albright syndrome. Patients with polyostotic fibrous dysplasia often have renal phosphate wasting. The disease, however, has a wide clinical spectrum, so many patients are asymptomatic. Diagnosis relies on radiographs and pathology. Bisphosphonates have been used in the treatment of fibrous dysplasia to relieve bone pain and improve lytic lesions, but they are still under clinical evaluation. Calcium, vitamin D and phosphorus supplements may be useful in some patients. Surgery is also helpful to prevent and treat fracture and deformities.
骨纤维异常增殖症是一种遗传性非遗传性疾病，其特征为骨痛、骨畸形和骨折，可累及一块或多块骨骼。它是由20q13染色体上鸟嘌呤核苷酸结合α刺激（GNAS）复合位点中编码刺激性G蛋白α亚基（Gs）的基因在合子后发生错义突变引起的。这种突变导致成骨细胞分化缺陷，且骨吸收通常增加。骨病变可能与内分泌功能障碍和牛奶咖啡斑有关；这被称为McCune-Albright综合征。多骨型纤维异常增殖症患者常伴有肾性磷酸盐流失。然而，该疾病临床谱广泛，因此许多患者无症状。诊断依赖于X线片和病理学检查。双膦酸盐已被用于治疗纤维异常增殖症以缓解骨痛并改善溶骨性病变，但仍处于临床评估阶段。钙、维生素D和磷补充剂对一些患者可能有用。手术对于预防和治疗骨折及畸形也有帮助。
