葡萄糖转运子Ⅰ缺乏综合征相关癫痫临床与分子遗传学研究  

Clinical and molecular genetic study of epilepsy related to glucose transporter type 1 deficiency syndrome

作　　者：张世敏[1] 包新华[1] 

机构地区：[1]北京大学第一医院儿科,北京100034

出　　处：《中国实用儿科杂志》2015年第7期506-511,共6页Chinese Journal of Practical Pediatrics

摘　　要：葡萄糖转运子Ⅰ缺乏综合征是一种可治的神经代谢性疾病,由SLC2A1基因突变所致,呈常染色体显性遗传,散发病例为主。SLC2A1基因缺陷导致葡萄糖不能有效通过血脑屏障,使脑组织缺乏能量供应,产生一系列神经系统症状。主要表现为早发难治性癫痫,其他症状尚包括发育落后、共济失调、阵发性运动诱发的运动障碍等。脑脊液葡萄糖降低、脑脊液葡萄糖与血糖比值低下是本病的特征性改变。生酮饮食可显著改善患者预后。Glucose transporter type 1 deficiency syndrome （GLUT1-DS） is a treatable neurometabolic disease, which is caused by SLC2A1 gene mutation. GLUT1-DS is inherited as an autosomal dominant trait, though most of the cases are spo- radic. Mutation in gene SLC2A1 impairs glucose transport across the blood-brain barrier and leads to cerebral energy de- ficiency. Consequently, it will significantly affect brain func- tion and development. Common clinical features include infan- tile seizures, developmental delay, ataxia, and paroxysmal ex- ercise- induced dystonia. Hypoglycorrhachia and a decreased CSF to blood glucose ratio are the characteristic laboratory findings in this disease. Early diagnosis and treatment with ke- togenic diet improves the patient＇s long-term neurologic out- come.

关 键 词：葡萄糖转运子Ⅰ缺乏综合征 SLC2A1基因 癫痫 生酮饮食 

分 类 号：R72[医药卫生—儿科]