生酮饮食治疗Dravet综合征患儿的疗效分析

Effect of ketogenic diet in patients with Dravet syndrome

目的评估生酮饮食(Ketogenic diet,KD)治疗Dravet综合征(Dravet syndrome,DS)患儿的临床疗效。方法回顾性分析2015年6月—2019年10月广东三九脑科医院收治DS患儿的临床资料,对其临床发作、脑电图(EEG)及认知、语言、行为发育进行评估,按照改良的Johns Hopkins方案配制KD,监测患儿血糖、血酮,应用Engel分级评估发作减少疗效,并评价KD后患儿EEG及认知、语言、运动功能改善情况。结果共收集DS患儿26例,其中男20例,女6例,有效者15例(57.7%),每例患儿KD治疗至少4周,其中KD治疗1周内起效者7例,2周内起效者3例,占总有效人数的66.7%(10/15)。KD治疗4、12、24、48周保留率分别为26例(100%)、24例(92.3%)、20例(76.9%)、11例(42.3%),有效率分别为10例(38.5%)、13例(54.2%)、13例(65.0%)、9例(81.8%)。16例KD治疗后复查EEG,14例(87.5%)EEG提示好转,其中3例发作仍控制在EngelⅣ级。16例KD治疗后行认知、语言、运动功能评估,10例(62.5%)认知改善,11例(68.8%)语言改善,8例(50.0%)运动改善。KD的主要不良反应包括消化道症状及代谢紊乱。结论 KD治疗具有起效快,半数以上患儿可有效减少发作,部分患儿EEG有改善,部分患儿认知、语言及运动有不同程度的改善,不良反应可耐受。建议对抗癫痫药物反应效果差的DS患儿尽早开启KD治疗。

Objective To explore the effect of Ketogenic diet(KD) in patients with Dravet syndrome(DS).Methods The seizures, electroencephalogram(EEG) and cognitive function of 26 DS patients receiving treatment of KD from June 2015 to October 2019 in the Epilepsy Centre of Guangdong 999 Brain Hospital were analyzed retrospectively.Modified Johns Hopkins protocol was used to initiate KD, blood glucose and urinary ketone bodies were monitored in the patients. The effect was evaluated by Engel outcome scale. And the EEG, cognition, language and motor function of the patients were assessed. Results 26 DS patients(20 boys, 6 girls) received treatment of KD more than 4 weeks, the seizure of epilepsy were reduced above 50% in 15 patients(57.7%), 2 patients were seizure free. Among them, the effcet of KD can be observed in 7 patients within one week and 3 patients within two weeks, accounting for 66.7%(10/15). 26 cases(100%),24 cases(92.3%), 20 cases(76.9%), 11 cases(42.3%) were reserved in 4, 12, 24, 28 weeks respectively. 26 patients achieved Engel Ⅰ, Ⅱ,Ⅲ,Ⅳgrade effect, accounting for 38.5%(10/25), 54.2%(13/23), 65.0%(12/19), 81.8%(9/11) respectively according to Engel scale. The back ground rhythm of EEG showed obvious improvement in 14 patients wthin 16 patients who revieved EEG after KD. 17 patients assessed cognitive, language and motor function after KD, cognitive function was improved in 10 patients, language was enhanced in 11 patients, motor function of 8 patients was enhanced. The main adverse reactions of KD in the treatment process were mainly gastrointestinal symptoms and metabolic disorders.Conclusion KD treatment in DS has many advantages, such as fast acting, being effective in more than half of the DS patients and tolerable adverse reactions. Cognitive, language and motor function were improved in some patients. Drug resistant DS patients are suggested to receive KD treatment early.