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目的评估生酮饮食(KD)治疗Dravet综合征(DS)患儿的临床疗效。方法回顾性研究2007年1月至2015年11月北京大学第一医院儿科采用KD治疗的46例DS患儿资料,对其临床发作、脑电图(EEG)、认知功能特点进行总结。按照改良的Johns Hopkins方案配制KD,每天监测患儿尿酮体确保酮症状态,应用Engel分级进行发作疗效评估,并评价KD引入后对患儿认知、语言、运动功能改善情况。结果 46例(男25例,女21例)DS患儿KD治疗至少满12周,其中29例(63.0%)完成24周以上,16例(34.8%)完成48周以上。9例发作完全控制,25例发作次数减少>50%,且均于KD治疗2周内起效。KD治疗12周时,46例患儿中达到Engel分级标准Ⅰ级、Ⅱ级、Ⅲ级、Ⅳ级疗效者分别占19.6%(9/46)、13.0%(6/46)、21.7%(10/46)、45.7%(21/46)。6例复查EEG显示背景节律明显改善,发作间期放电频率明显降低。其中15例认知功能有明显改善,8例语言有进步,8例运动功能有进步。KD治疗过程中的不良反应主要为消化道症状和代谢紊乱。结论 KD治疗DS具有起效迅速、半数患儿可有效减少发作,不良反应可耐受的特点,建议对抗癫痫药物疗效差的DS患儿尝试KD治疗。
Objective To evaluate the clinical efficacy of ketogenic diet (KD) in children with Dravet syndrome (DS). Methods The data of 46 children with DS who were treated with KD from January 2007 to November 2015 in Peking University First Hospital were retrospectively reviewed. The clinical features, EEG and cognitive function were summarized. KD was formulated according to the modified Johns Hopkins regimen. Urine and ketone bodies in children were monitored daily to confirm ketosis status. Engel grade was used to evaluate the efficacy of the attack. The cognitive, speech and motor function of children with KD was evaluated. Results 46 children (25 males and 21 females) had KD for at least 12 weeks, of which 29 (63.0%) completed more than 24 weeks and 16 (34.8%) completed more than 48 weeks. 9 cases of complete control of seizures, 25 cases of the number of attacks reduced> 50%, and were KD treatment within 2 weeks of onset. At 12 weeks after KD treatment, the Engel grading standards Ⅰ, Ⅱ, Ⅲ and Ⅳ in 46 cases were 19.6% (9/46), 13.0% (6/46) and 21.7% /46),45.7%(21/46). 6 cases of review of EEG showed a significant improvement in background rhythm, discharge frequency was significantly reduced during interictal. 15 cases of cognitive function improved significantly, 8 cases of language progress, 8 cases of motor function improved. Adverse reactions in the course of KD treatment are mainly gastrointestinal symptoms and metabolic disorders. Conclusions The treatment of DS with KD has rapid onset, half of which can effectively reduce the onset of seizures and the tolerability of adverse reactions. It is suggested that patients with DS who have poor response to epilepsy should be treated with KD.