雷帕霉素治疗结节性硬化症合并室管膜下巨细胞型星形细胞瘤四例报告及文献复习  

Rapamycin treatment in subependymal giant cell astrocytomas associated with tuberous sclerosis complex： four case reports and literature review

作　　者：姜涛[1] 李春德[1] 葛明[1] 甲戈[1] 马振宇[1] 

机构地区：[1]首都医科大学附属北京天坛医院神经外科,100050

出　　处：《中华神经外科杂志》2014年第10期1039-1042,共4页Chinese Journal of Neurosurgery

基　　金：基金项目：国家临床重点专科建设（2011）

摘　　要：目的 探讨雷帕霉素治疗结节性硬化症合并室管膜下巨细胞型星形细胞瘤的安全性和有效性,并介绍该领域的相关进展.方法 对4例使用雷帕霉素治疗的结节性硬化症合并室管膜下巨细胞型星形细胞瘤患者进行总结分析.1例合并面部血管纤维瘤、癫痫及肾脏病变;1例合并癫痫、躯干白斑;1例合并面部血管纤维瘤及肾脏病变;1例为既往术后残留合并有面部血管纤维瘤、肾脏病变,均采用口服雷帕霉素治疗.结果 4例患者中3例颅内肿瘤明显缩小,1例无明显改变;2例癫痫部分缓解,3例面部皮疹有好转,患者对药物的耐受性较好.不良反应主要为口腔溃疡、扁桃体炎、血胆固醇升高、高血糖等.结论 雷帕霉素治疗结节性硬化症合并室管膜下巨细胞型星形细胞瘤是一种安全、有效的方法,对癫痫等其他器官病变也有一定的效果,不良反应较轻,具体适应证仍需继续探讨.Objective To investigate the efficacy and safety of rapamycin treatment in subependymal giant cell astrocytoma （SEGA） patients associated with tuberous sclerosis complex （TSC）.Method Four patients who were diagnosed with SEGA associated with TSC in Beijing Tiantan hospital received rapamycin treatment.One case had facial angiofibromas,epilepsy,and kidney lesions; one epilepsy,trunk plaque,et al; one facial angiofibromas and kidney lesions; one facial angiofibromas and kidney lesions whose SEGA was operated three years before.They were definitely diagnosed as TSC according to diagnostic criteria.Results SEGAs in three out of four patients were shrunk after the rapamycin treatment.The frequency of epileptic seizures in two patients was also decreased.There was also positive response of facial angiofibromas in three patients.The adverse events were mild with oral ulcer,acute tonsillitis,hyperlipidemia and hyperglycemia.The rapamycin treatment was well tolerated in four patients.Conclusion Rapamycin was safe and effective in the treatment of SEGA associated with TSC with mild adverse events.It was also effective in the treatment of TSC related epilepsy and other diseases.When and who should receive rapamycin treatment in TSC patients were still unknown.

关 键 词：结节性硬化症 室管膜下巨细胞型星形细胞瘤 MTOR抑制剂 依维莫司 雷帕霉素 

分 类 号：R593.2[医药卫生—内科学]