葡萄糖转运体1缺陷综合征疾病特征及生酮饮食治疗多中心临床研究  

Clinical characteristics and ketogenic diet therapy of glucose transporter type 1 deficiency syndrome in children:a multicenter clinical study

作　　者：郁莉斐 张玉琴[2] 段婧[3] 倪燕 龚晓妍[4] 卢忠英[4] 廖建湘[3] 卢孝鹏[5] 石中南[5] 雷梅芳[2] 钟建民[6] 查剑[6] 周水珍 Yu Lifei;Zhang Yuqin;Duan Jing;Ni Yan;Gong Xiaoyan;Lu Zhongying;Liao Jianxiang;Lu Xiaopeng;Shi Zhongnan;Lei Meifang;Zhong Jianmin;Zha Jian;Zhou Shuizhen(Department of Neurology,National Children's Medical Center,Children's Hospital of Fudan University,Shanghai 201102,China;Department of Neurology,Tianjin Children's Hospital,Tianjin 300400,China;Department of Neurology,Shenzhen Children's Hospital,Shenzhen 518038,China;Department of Nutrition,National Children's Medical Center,Children's Hospital of Fudan University,Shanghai 201102,China;Department of Neurology,Children's Hospital of Nanjing Medical University,Nanjing 210008,China;Department of Neurology,Jiangxi Provincial Children's Hospital,Nanchang 330006,China)

机构地区：[1]国家儿童医学中心复旦大学附属儿科医院神经科,上海201102 [2]天津市儿童医院神经内科,300400 [3]深圳市儿童医院神经内科,518038 [4]国家儿童医学中心复旦大学附属儿科医院营养科,上海201102 [5]南京医科大学附属儿童医院神经内科,210008 [6]江西省儿童医院神经内科,南昌330006

出　　处：《中华儿科杂志》2020年第11期881-886,共6页Chinese Journal of Pediatrics

摘　　要：目的探讨儿童葡萄糖转运体1缺陷综合征(GLUT1-DS)的临床特点及生酮饮食治疗的效果和安全性。方法回顾性收集2015至2019年就诊于复旦大学附属儿科医院、天津市儿童医院、深圳市儿童医院、南京医科大学附属儿童医院和江西省儿童医院神经内科所有GLUT1-DS患儿共19例的临床资料,对其首发症状、主要临床表现、脑脊液特点、基因检测结果及生酮饮食治疗的效果和安全性进行分析。结果19例患儿中男13例、女6例,首诊年龄为11.0(1.5~45.0)月龄,确诊年龄为54.0月龄(2.8月龄~11岁);13例以癫痫发作为首诊症状,不同形式的强直-阵挛发作是最常见的癫痫发作类型(全面性强直阵挛发作7例、局灶性强直或阵挛发作5例、全面性强直4例);4例患儿对抗癫痫药物有效;12例患儿有发作性运动障碍,发作性共济失调在12例患儿中普遍存在;19例患儿都存在不同程度精神运动发育落后。17例进行脑脊液检查,16例脑脊液糖水平低于2.2 mmol/L,脑脊液糖/血糖指数<0.45,仅1例正常(分别为2.3 mmol/L和0.47);16例有明确SLC2A1基因变异,错义、移码和无义变异是较多见的变异类型,分别为5、5和3例。19例患儿明确诊断后都给予生酮饮食治疗,18例癫痫发作有效控制,11例运动障碍有效改善,18例认知功能有效改善。生酮饮食治疗各期均未出现严重不良反应。结论GLUT1-DS确诊时间晚,需提高临床医生对其早期识别,尽早进行脑脊液糖检测及基因检测。生酮饮食是GLUT1-DS有效及安全的治疗方法,少数患儿饮食治疗无效。Objective To explore the clinical characteristics of pediatric glucose transporter type 1 deficiency syndrome(GLUT1 DS),evaluate the efficacy and safety of ketogenic diet therapy(KDT).Methods Clinical data of 19 children with GLUT1 DS admitted to Children′s Hospital of Fudan University,Tianjin Children's Hospital,Shenzhen Children′s Hospital,Children′s Hospital of Nanjing Medical University andJiangxi Provincial Children's Hospital between 2015 and 2019 were collected retrospectively.The first onset symptom,main clinical manifestations,cerebrospinal fluid features and genetic testing results of patients were summarized,the efficacy and safety of ketogenic diet treatment were analyzed.Results Among the 19 cases,13 were males and 6 females.The age of onset was 11.0(1.5-45.0)months,the age of diagnosis was 54.0(2.8-132.0)months.Epilepsy was the first onset symptom of 13 cases.Different forms of tonic-clonic seizures were the most common types of epilepsy(7 cases with generalized tonic-clonic seizures,5 cases with focal tonic or clonic seizures,4 cases with generalized tonic seizures).Antiepileptic drugs were effective in 4 cases.Paroxysmal motor dysfunction was present in 12 cases and ataxia was the most common one.All patients had different degrees of psychomotor retardation.Among 17 patients received cerebrospinal fluid examination,cerebrospinal fluid(CSF)glucose level was lower than 2.2 mmol/L and CSF glucose/glycemic index was<0.45 in 16 cases,only 1 case presented normal CSF glucose level(2.3 mmol/L)and normal CSF glucose/glycemic index(0.47).SLC2A1 gene mutations were found in 16 patients,missense,frameshift and nonsense mutations were the common types with 5 cases,5 cases and 3 cases respectively.All 19 patients were treated with ketogenic diet,which was effective in 18 cases in seizure control,11 cases in dyskinesia improvement and 18 cases in cognitive function improvement.No serious side effects were reported in any stage of KDT.Conclusions The diagnosis of GLUT1 DS is often late.It is necessary to i

关 键 词：葡萄糖转运体1型 基因 SLC2A1 癫痫 生酮饮食 

分 类 号：R748[医药卫生—神经病学与精神病学]