McCune-Albright综合征是一种少见的G蛋白病,临床以性早熟、多发性骨纤维异常增殖症及皮肤斑片状色素沉着为最常见的症状,病因是在胚胎形成过程中的鸟嘌呤核苷酸结合蛋白(G蛋白)α亚基(Gsα)基因的突变,导致刺激cAMP产生可激活许多内分泌激素的受体。治疗主要是对症治疗,尚无有效根治方法。该文报道3例该病病例,并复习了相关文献。这3例病例均出现多发性骨纤维异常增殖症、性早熟及咖啡色色素斑典型的三联征而确诊。

McCune-Albright syndrome is a rare G proteins α disorder. The disorder is characterized by polyostotic fibrous dysplasia, sexual precocity and hyperpigmented macules. It is caused due to mutations in the gene Gsα that incodes the α subunit of the trimeric guanosine triphate-binding protein. There is no specific treatment for this syndrome. Treatment is generally symptomatic. This paper reported three cases of McCune-Albright syndrome and reviewed the relevant literatures regarding to the pathogenesis, pathological features, diagnosis and treatment. All three cases presented with a characteristic triad: polyostotic fibrous dysplasia, sexual precocity and hyperpigmented macules and were thus definitely diagnosed with McCune-Albright syndrome.