葡萄糖转运蛋白1型缺乏综合征(GLUT1)和使用生酮饮食治疗体内疾病:一例报告

E. Lukyanova, L. M. Sushko, S. O. Ayvazyan, K. V. Osipova, Pyr'eva Ea, Sorvacheva Tn, S. S. Zhilina, T. Kozhanova, T. I. Mescheryakova
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引用次数: 1

摘要

我们介绍了生酮饮食(KD)在治疗葡萄糖转运蛋白缺乏综合征I型(GLUT1)患者的耐药性癫痫中的应用经验。我们观察了6例由GLUT1引起的难治性癫痫患儿。KD对GLUT1的高效治疗已被证实。所有患者从KD开始就完全没有癫痫发作和脑电图异常。我们注意到所有孩子的认知和语言发展都发生了积极的变化。由于病情稳定缓解,停止服用抗癫痫药物。在智力和心理情感领域有进一步的积极动力;孩子们开始上幼儿园和特殊学校。因此,生酮饮食是高效的,也许是治疗GLUT1的唯一方法。对于100%的儿童葡萄糖转运蛋白缺乏综合征I型(GLUT1)使用KD治疗和预防所有类型的癫痫发作。生活质量的提高我们用海牙标准来衡量。使用KD,我们已经在Griffits 2, Griffits 3量表测试的患者的精神运动发展中取得了可靠的积极变化。
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Glucose Transporter Type 1 Deficiency Syndrome (GLUT1) andusing Ketogenic Diet in Treatment of De Vivo Disease: A CaseReports
We present experience of ketogenic Diet (KD) applying in the treatment of pharmaco-resistant epilepsy in patients with Glucose Transporter Deficiency Syndrome Type I (GLUT1). We observed six children with refractory epilepsy due to GLUT1. The high effectiveness of KD in the treatment of GLUT1 was demonstrated. All patients were achieved complete absence of seizures and EEG abnormalities from the beginning of KD. We noticed positive shift in cognitive and speech development for all children. Antiepileptic drugs were stopped taking due to the stable remission. There was a further positive dynamics in intelligence, psychoemotional sphere; the children began to go a nursery school and a special school. Thus, the ketogenic diet is high effectiveness and, perhaps, the only method for GLUT1 treatment. For 100% of children with Glucose Transporter Deficiency Syndrome Type I (GLUT1) using KD to treating and prevention of all types of seizures. The improvement of the quality of life for them we estimated by Hague scale. Using the KD we have achieved the reliable positive changes in the psychomotor development of patients tested by Griffits 2, Griffits 3 scales.
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