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

目的:分析1例儿童糖原累积病Ⅱ型的临床特点及基因突变位点。方法:对重庆医科大学附属儿童医院收治的1例通过基因测序明确诊断的糖原累积病Ⅱ型患儿的临床资料如临床特点、实验室检查、基因突变进行分析。结果:本例患儿起病隐匿,以乏力、肝功能异常为主要表现,临床表现不十分典型。通过基因测序发现2个基因突变位点,包括c.2238G>C(p.W746C)及c.2608C>T(p.R870X),2个突变位点既往均被证实与糖原累积病Ⅱ型相关。本例患儿未给予酶替代治疗,治疗结局需要继续随访。结论:糖原累积病Ⅱ型是由GAA基因突变引起的GAA活性降低所致,GAA基因检测是可行、有效的诊断方法。

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.2238 G〉C（p.W746C） and c.2608 C〉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.