糖原累积病Ⅲ型并发横纹肌溶解症1例并文献复习

A Case of Glycogen Accumulation Disease TypeⅢComplicated with Rhabdomyolysis and Literature Review

目的分析1例糖原累积病Ⅲ型并发横纹肌溶解症患儿的临床特点。方法回顾性分析2021年5月11日1例糖原累积病Ⅲ型并发横纹肌溶解症患儿的临床资料,并结合文献,总结其发病机制、临床表现及治疗方案。结果患儿运动后横纹肌溶解,空腹血糖略低于正常值,腹部CT提示肝硬化、门静脉高压,经基因检测发现AGL基因c.1735+1G>T纯合突变,最终诊断为糖原累积病Ⅲ型。结论糖原累积病Ⅲ型是一种常染色体隐性遗传病,儿童期主要表现为肝大、低血糖等肝病相关症状,成人期表现为进行性肌无力、肌萎缩、心肌肥厚等。糖原累积病Ⅲ型并发横纹肌溶解症者罕见,基因检测有助于明确诊断。

Objective To analyze the clinical characteristics of a child with glycogen accumulation disease typeⅢcomplicated with rhabdomyolysis.Methods The clinical data of a case of glycogen storage disease typeⅢcomplicated with rhabdomyolysis on May 11,2021 were retrospectively analyzed.Combined with literature,the pathogenesis,clinical manifestations and treatment plan were summarized.Results After exercise,the child had rhabdomyolysis,fasting blood glucose was slightly lower than normal,and abdominal CT showed liver cirrhosis and portal hypertension.Genetic testing revealed a homozygous mutation of the AGL gene c.1735+1G>T,and the final diagnosis was glycogen accumulation disease typeⅢ.Conclusion Glycogen Accumulation Disease TypeⅢis an autosomal recessive inherited disease,which mainly manifests as liver disease-related symptoms such as hepatomegaly and hypoglycemia in childhood.Manifestations in adulthood are progressive muscle weakness,muscle atrophy,and myocardial hypertrophy.Glycogen Accumulation Disease TypeⅢcomplicated with rhabdomyolysis is rare,and genetic testing can help confirm the diagnosis.