天津医药

天津医药 ›› 2020, Vol. 48 ›› Issue (8): 777-779.doi: 10.11958/20193847

• 病例报告 • 上一篇    下一篇

葡萄糖转运子-1缺乏综合征一例报告

王艳萍，华颖，井淼，汤红卫   

  1. 无锡市儿童医院儿神经内科（邮编214023）
  • 收稿日期:2019-12-23 修回日期:2020-04-09 出版日期:2020-08-15 发布日期:2020-08-12
  • 作者简介:王艳萍（1985），女，硕士，副主任医师，主要从事儿童神经系统疾病相关研究
  • 基金资助:
    无锡市卫生健康委科研青年项目（Q201930）

A case report of glucose transporter 1 deficiency syndrome

WANG Yan-ping, HUA Ying, JING Miao, TANG Hong-wei   

  1. Department of Neurology, Wuxi Children’s Hospital, Wuxi 214023, China
  • Received:2019-12-23 Revised:2020-04-09 Published:2020-08-15 Online:2020-08-12

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摘要： 葡萄糖转运子-1缺乏综合征（GLUT1-DS）是一种临床罕见的常染色体显性遗传性疾病，临床特点为起病年龄早，以反复抽搐发作起病，伴有智力、运动发育落后，行生酮饮食治疗效果好。本文回顾性分析1例我院确诊的GLUT1-DS患儿，采用二代测序癫痫基因检测包发现SLC2A1基因突变，c.164_165delinsTTCA的杂合移码突变，为新发突变。通过基因分析发现的该新发突变丰富了GLUT1-DS基因突变数据库。

关键词: 癫痫, 葡萄糖转运子-1缺乏综合征, SLC2A1基因

Abstract: Glucose transporter-1 deficiency syndrome (GLUT1-DS) is a rare clinical autosomal dominant genetic disease characterized by early onset age, onset of recurrent convulsions, mental and motor retardation, and good effect of ketogenic diet. A case of GLUT1-DS diagnosed in our hospital was analyzed retrospectively. SLC2A1 gene mutation and the heterozygous shift coding mutation of c.164_165 delins TTCA were found by second-generation sequencing of epileptic gene package. A new mutation was found by gene analysis, which enriched GLUT1-DS gene mutation database. 

Key words: epilepsy, glucose transporter 1 deficiency syndrome, SLC2A1 gene

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