Matarazzo P, Lala R, Masi G, Andreo M, Altare F, de Sanctis C
Department of Pediatric Endocrinology, Regina Margherita Children's Hospital, Turin, Italy.
J Pediatr Endocrinol Metab. 2002;15 Suppl 3:929-37.
Thirteen patients with McCune-Albright syndrome (MAS) and bone fibrous dysplasia (BFD) have been treated for 2-6 years with pamidronate, an aminobisphosphonate which inhibits osteoclastic function. MAS is a rare genetic condition caused by constitutive activating mutations of the Gs protein and manifests with skin dysplasia, bone fibrous dysplasia, and multiple endocrinopathies. Raised serum alkaline phosphatase and urinary hydroxyproline have been reported in these patients, indicating bone metabolic hyperactivity. Encouraging therapeutic results have been achieved with pamidronate, mainly in adults. In our study, treatment reduced bone pain, fracture rate and metabolic indices of bone turnover, in particular significantly decreased bone alkaline phosphatase and cross-links (Wilcoxon test; p <0.06), and increased bone mineral density (DEXA). Signs of healing, such as thickening of the cortical bone, were found in some patients. Three patterns of MRI were found: homogeneous hypointense fibrous tissue, 'dotted' hypointense fibrous tissue, and hyperintense cystic images. Pamidronate treatment can be considered a favorable therapeutic option for patients with MAS.
13例患有McCune-Albright综合征（MAS）和骨纤维发育不良（BFD）的患者接受了帕米膦酸盐治疗，为期2至6年。帕米膦酸盐是一种氨基双膦酸盐，可抑制破骨细胞功能。MAS是一种由Gs蛋白的组成性激活突变引起的罕见遗传病，表现为皮肤发育异常、骨纤维发育不良和多种内分泌病。据报道，这些患者血清碱性磷酸酶和尿羟脯氨酸升高，表明骨代谢活跃。帕米膦酸盐治疗取得了令人鼓舞的效果，主要是在成人患者中。在我们的研究中，治疗减轻了骨痛、降低了骨折率和骨转换代谢指标，特别是骨碱性磷酸酶和交联显著降低（Wilcoxon检验；p<0.06），并增加了骨密度（DEXA）。在一些患者中发现了愈合迹象，如皮质骨增厚。发现了三种MRI模式：均匀低信号纤维组织、“点状”低信号纤维组织和高信号囊性图像。帕米膦酸盐治疗可被认为是MAS患者的一种良好治疗选择。
