生酮饮食治疗结节性硬化症相关癫痫的研究进展  

Research progress of ketogenic diet therapy for epilepsy associated with tuberous sclerosis complex

作　　者：方雨 廖建湘[1] Fang Yu;Liao Jianxiang(Department of Neurology,China Medical University Shenzhen Children′s Hospital,Shenzhen 518038,Guangdong Province,China)

机构地区：[1]中国医科大学深圳市儿童医院神经内科,广东深圳518038

出　　处：《中华实用儿科临床杂志》2021年第14期1111-1114,共4页Chinese Journal of Applied Clinical Pediatrics

基　　金：深圳市医疗卫生三名工程(SZSM201812005)。

摘　　要：结节性硬化症(TSC)是一种遗传性多系统疾病,由TSC1或TSC2基因突变引起,发病率为1/14000~1/6000。TSC的神经系统表现包括癫痫、发育迟滞、精神异常和神经功能缺损等,其中癫痫最为常见,占80%~90%,其中55%~62%为药物难治性癫痫。TSC相关癫痫严重影响TSC患者的临床预后及生活质量。目前,TSC相关癫痫的治疗可采用哺乳动物雷帕霉素靶蛋白(mTOR)抑制剂、抗癫痫药物、生酮饮食(KD)、神经调控、姑息性或切除手术治疗等。虽然KD治疗TSC相关癫痫的确切机制尚不清楚,但已有研究证实其与作用于过度活化的mTOR信号通路和其他多靶点作用机制有关,且该疗法的安全性和有效性已在大量临床研究中得到证实。对于TSC相关癫痫,抗癫痫药物无效或疗效欠佳、无法手术或手术无效时,均推荐使用KD。现就KD治疗TSC相关癫痫的机制及临床疗效方面的研究进展进行综述。Tuberous sclerosis complex(TSC)is a hereditary and multisystemic disease,caused by mutations in the TSC1 or TSC2 gene,with an incidence of about 1/14000 to 1/6000.The neurological manifestations of TSC often include epilepsy,developmental delay,mental disorders and loss of neurological function.Among them,epilepsy is the most common manifestation,with an incidence of 80%-90%,55%-62%of which is drug-resistant epilepsy.Epilepsy in TSC severely affects the clinical prognosis and life quality of patients.At present,epilepsy in TSC can be treated with the inhibitors of mammalian target of rapamycin(mTOR),antiepileptic drugs,ketogenic diet(KD),neuromodulation,palliative or resection operation.Although the exact mechanism of KD in the treatment of epilepsy in TSC is not clearly elucidated yet,it has been demonstrated in some studies that it is related to the inhibition of mTOR signaling pathway and other multiple mechanisms.Meanwhile,the safety and efficacy of KD therapy have been proven in many clinical studies.Therefore,KD is recommended for the treatment of epilepsy in TSC,especially when epilepsy is resis-tant to antiepileptic drugs,is not indicated for surgery or the surgery is ineffective.The research progress of the mechanism and clinical efficacy of KD therapy for epilepsy in TSC would be reviewed in this paper.

关 键 词：结节性硬化症 癫痫 生酮饮食 机制 疗效 

分 类 号：R742.1[医药卫生—神经病学与精神病学] R596.1[医药卫生—临床医学]