儿科药学杂志2017，Vol.23Issue(9)：25-27,3.DOI:10.13407/j.cnki.jpp.1672-108X.2017.09.009
糖原累积病Ⅱ型1例的临床特点及基因突变分析
Clinical Characteristics and Gene Mutation Analysis of a Child with Glycogen Storage Disease Type Ⅱ
甘川 1许红梅1
作者信息
- 1. 重庆医科大学附属儿童医院,重庆400014
- 折叠
摘要
Abstract
Objective:To analysis the clinical features and gene mutation of a child with glycogen storage disease type Ⅱ.Methods:We selected the clinical data such as clinical features,laboratory examination and gene mutation,which were diagnosed glycogen storage disease type Ⅱ with gene sequencing in the Children's Hospital of Chongqing Medical University.Results:This child with atypia clinical manifestation and the clinical features were increasing gradually which were characterized by fatigue and abnormal liver function.Gene detection revealed 2 compound heterozygous mutations in the child,included c.2238G ＞ C (p.W746C) and c.2608C ＞ T (p.R870X).The two gene mutations had been proved pathogenic with glycogen storage disease type Ⅱ.This child with no enzyme replacement therapy and the follow-up of treatment results was necessary.Conclusion:Glycogen storage disease type Ⅱ is caused by deficiency of GAA activity resulting from mutation of GAA gene.The detection of GAA gene sequencing is effective and feasible method for diagnosis of glycogen storage disease type Ⅱ.关键词
糖原累积病Ⅱ型/临床特点/基因突变Key words
glycogen storage disease type Ⅱ/clinical features/gene mutation分类
医药卫生引用本文复制引用
甘川,许红梅..糖原累积病Ⅱ型1例的临床特点及基因突变分析[J].儿科药学杂志,2017,23(9):25-27,3.
