Fibrous dysplasia of bone and McCune-Albright syndrome
Fibrous dysplasia of bone and McCune-Albright syndrome
复制标题
DOI：
10.1016/j.berh.2007.11.004
复制
发表时间：
2008-03-01
影响因子：
5.2
通讯作者：
Orcel, Philippe
中科院分区：
文献类型：
--
作者：
Chapurlat, Roland D.;Orcel, Philippe
骨纤维性发育不良是一种遗传性、非遗传性疾病，以骨痛、骨畸形和骨折为特征，累及一块或几块骨头。它是由染色体20q13的鸟嘌呤核苷酸结合α刺激（GNAS）复合体位点编码刺激g蛋白(Gs) α亚基的基因合子后发生的错义突变引起的。这种突变导致成骨细胞分化缺陷，骨吸收往往增加。骨病变可能与内分泌功能障碍和咖啡色斑有关；这被称为麦昆-奥尔布赖特综合症。多骨纤维发育不良患者常出现肾磷消耗。然而，这种疾病具有广泛的临床谱，因此许多患者无症状。诊断依赖于x光片和病理。双膦酸盐已被用于治疗纤维发育不良，以减轻骨痛和改善溶解性病变，但仍处于临床评估阶段。钙、维生素D和磷补充剂可能对某些患者有用。手术也有助于预防和治疗骨折和畸形。
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 20q 13. This mutation results in osteoblastic differentiation defects, and bone resorption is often increased. The bone lesions may be associated with endocrine dysfunctions and cafe-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.