McCune-Albright综合征伴巨人症临床特点及长期随访研究

摘要

Objective To investigate the clinical characteristics,causes of disease and responses to treatment in McCuneAlbright syndrome patients combined with gigantism.Methods Long-term follow-up were performed on two cases of McCune-Albright syndrome combined with gigantism,and in combination with literatures the clinical characteristics were analyzed and discussed.Results Both patients underwent neuronavigator assisted transsphenoidal resection of pituitary tumor.After operation,the levels of GH and IGF-1 were significantly decreased.In case 2,GH and IGF-1 levels returned to normal without recurrence during 3-year follow-up.In case 1,treatment of bromocriptine and long-acting somatostatin were performed;growth was notably inhibited and the levels of GH and IGF-1 were significantly decreased.Both patients received bisphosphonate therapy,and bone lesion progression was effectively controlled.Both patients were diagnosed with hypogonadism at the follow-up.Conclusion Treatment of this disease is a long procedure.Clinician should select individualized and comprehensive treatment measures according to the characteristics of patients.Neuronavigation in transsphenoidal resection of pituitary adenoma operation,long-acting somatostatin and bisphosphonate therapy are important measures to control the disease.%目的 探讨伴有巨人症的McCune-Albright综合征患者的临床特点、病程以及对治疗的反应.方法 长期随访北京协和医院收治的2例伴有巨人症的McCune-Albright综合征患者的临床治疗及实验室检查情况.结果 2例患者均接受了神经导航下经蝶入路垂体瘤切除手术,术后生长激素(GH)、胰岛素样生长因子-1(IGF-1)均明显下降,其中例2完全降至正常,随诊3年未见垂体瘤复发迹象;例1术后接受了溴隐亭和长效生长抑素的治疗,生长速度明显降低,GH和IGF-1下降.2例患者均接受了双膦酸盐治疗,骨骼病变进展均得到了有效控制.2例患者均在病程中出现了性腺功能减退.结论 治疗是一个长期的过程,需要临床医生根据患者的特点决定,采用个体化的综合治疗措施.神经导航下经蝶入路垂体瘤切除手术、长效生长抑素和双膦酸盐是控制本病的重要措施.