McCune-Albright综合征1例报告并文献复习

目的:探讨并提高对 McCune-Albright综合征的认识.方法:通过1例McCune-Albright综合征患者的临床资料和文献复习,详细分析McCune-Albright综合征的病因、临床表现、诊断、治疗及预后.结果:目前遵循的MAS 诊断标准为: 具有多发性骨纤维发育不良、加上至少一种典型的内分泌功能亢进, 和(或) 特异性皮肤色素沉着.基因诊断,可通过从超声引导下穿刺卵巢滤泡得到的囊内液、异常骨组织等病灶中取材行基因分析,发现Gs α基因的突变而确定.结论:McCune-Albright综合征在临床上十分少见且尚未被国内多数临床医生所认识,易被误诊或漏诊.治疗主要是对症治疗, 尚无有效根治方法.对于性早熟的患者以及皮肤的咖啡色色素沉着的患者应考虑到该病, 早发现有助于治疗.

McCune-Albright syndrome:A case report and review of literatures

Objective:To report a case of McCune-Albright syndrome (MAS). Methods:Investigated one case's clinical data of McCune-Albright syndrome and reviewed related literatures. Analyzed the cause of disease,clinical manifestation, diagnosis, treatment and prognosis. Results: The diagnostic criteria of MAS are the fibrous dysplasia of bone (FD), in addition to at least a kind of typical hypercrinemia, and (or) special café-au-lait skin spots. A definite diagnosis can be made by discovering the mutation of Gs α-gene in cyst fluid from the ovarian follicle and exceptional bone tissue by gene diagnosis. Conclusion:MAS is a rare disease in clinic and the most of domestic doctors don't know it yet, so it is easy to be misdiagnosed or missed diagnosis. There is no specific treatment for MAS. We must consider it when encounter these patients with sexual precocity as well as with café-au-lait skin spots, and it will be helpful to treat by earlier discovery.