朱登纳-生酮饮食治疗儿童难治性癫痫(课)课件.pptVIP

MAD疗效 129儿童和成人: --44%减少50%发作 --28%减少90%发作 --起效快，（类似KD，2周） Koffoff Neurology 2003; Koffoff Epilepsia 2006;Kang Epilepsia 2007; Koffoff Epilepsy Behav 2007;Ito Brain Dev 2007; Koffoff Epilepsia 2008; Carrette Clin Neuro Neurosurg 2008;Weber Seizure 2008; porta Seizure 2009 低糖指数饮食（Low Glycemic Index Treatment, LGIT) 更能“解放”的饮食 允许更多碳水化合物的摄入，选择升糖指数50的食物 76患者（Epilepsia 2008 2009)减少发作50% : 42%(1M);50%(3M),54%(6M),66%(12M). SME （Dravet syndrome） 2年后，75%的患者能减少75%的发作 Dravet syndrome: Ketogenic diet Duration on the diet: sixteen of the original 24 children stayed on the diet Six patients remained on the diet for 2 years Five patients remained on the diet for 3 years Five patients for 4 years Efficacy of the diet: two years after initiating the diet,16(66.5%) of the initial patients remained on the diet. Two (12.5%) patients were seizure free Ten (62.5%) patients had a 75-99% decrease in seizures The remaining four (25%) patients had a 50-74% decrease in seizures Two years after starting the diet,12(75%) children had achieved a75% decrease in their seizures. MAE(Doose syndrome) 肯定有效的方法，可以更早期考虑 Treatment MAE: Ketogenic Diet ·81 pt MAE －KD most effective treatment ACTH,ETX －Oguni et al,Neuropeds 2002 ·11 pt MAE －KD 6 pt50%,4 pt 75-100% sz red －Fejermen et al,Adv Neur 2005 ·30 pt MAE －11 KD, 6 on KD 18 mo,2 sz free 4 50%, red sz －Caraballo et al Enilepsy Disord 2006 早发性儿童失神与GLUT-1缺陷 10%的儿童早发失神是由于GLUT-1缺陷 GLUT-1缺陷可能比以前认为的更多 KD 是GLUT-1缺陷唯一有效的疗法 Early onset absence epilepsy due to GLUT1 deficiency(4/34,10%) Onset: 2 at 3yrs, 2 at 13-14 mths 2 normal intellect, 2 mild intellectual disability 2 seizure free on VPA±LTG 2 ongoing absences 3 GTCS-12 mths,7yrs,8yrs 1 myoclonic seizures at 14 mths Mutations: 3 missense, 1 insertion Inheritance: 2 de novo, 2 inherited 结节性硬化 66%患者减少90%的发作 Ketogenic diet: TSC experience 12 patients:7 MGH, 5JHH Ages 8-18yr,mean duration of KD 2 years (range 2m-5yr) 11/12 experienced