2例糖原贮积病Ⅻ型患儿的基因突变分析

Mutation analysis of 2 children with glycogen storage disease Ⅻ

目的探讨糖原贮积病Ⅻ型(GSDⅫ)患者的临床表现和基因突变特征。方法对滕州市妇幼保健院收治的2例GSDⅫ型病患的临床资料进行回顾性研究,通过靶向测序技术进行基因检测,并结合文献复习,归纳GSDⅫ型病患的临床症状和基因特性。结果2例病患为兄弟关系,均有新生儿窒息史,患者肌肉张力降低,肌酶水平反复升高,新生儿期即出现溶血性贫血,且贫血治疗效果不佳。病例1随访到5岁,表现为肌肉耐力差,语言发育滞后,并且发热时贫血加重伴肌酶升高显著。病例2随访到8个月,未发现运动发育滞后现象。患者的基因检测结果为ALDOA基因突变,c.619G>A(p.Glu206Lys),双亲均为野生杂合子。结论GSDⅫ型病患表现出一系列相对一致的症状,如肌病和横纹肌溶解症,通常在新生儿或幼儿期就已显现,可能伴随溶血或发育障碍。

Objective To investigate the clinical manifestations and gene mutation characteristics of patients with Glycogen storage diseaseⅫ(GSDⅫ).Methods A retrospective study was conducted on the clinical data of two patients with GSDⅫadmitted to the Tengzhou Maternal and Child Health Hospital,and the clinical symptoms and genetic characteristics of patients with GSDⅫwere summarised through genetic testing by targeted sequencing technology and literature review.Results Two patients were brothers,both with a history of neonatal asphyxia,with reduced muscle tone,recurrent elevated muscle enzyme levels,haemolytic anaemia in the neonatal period,and poorly treated anaemia.Case 1 was followed up to 5 years of age and presented with poor muscular endurance,delayed speech development,and worsening of the anaemia with fever with significant elevation of muscle enzymes.Case 2 was followed up to 8 months of age and no motor developmental delay was observed.The patient’s genetic testing analyses resulted in a mutation in the ALDOA gene,c.619G>A(p.Glu206Lys),and both parents were wild heterozygous.Conclusion Patients with GSDⅫexhibit a relatively consistent set of symptoms,including myopathy and rhabdomyolysis,which usually manifests in the neonatal or early childhood period and may be accompanied by haemolysis or developmental disorders.