Abstract:

Abstract： Objective To summarize the clinical features of hepatic glycogen storage disease to improve the diagnosis and treatment and decrease the possibility of misdiagnosis. Methods Twelve cases of hepatic glycogen storage disease in Shengjing Hospital from May, 2007 to November, 2013 were analyzed retrospectively and followed up. Results Two cases were misdiagnosed in the 5 final diagnosed cases at first treatment. Liver dysfunction and growth retardation are the main symptoms, 2 cases with low blood glucose and 3 cases with jaundice；4 cases were screened positive result for epinephrine stimulating test. Two time of follow-up confirmed these cases still suffered from hepatomegaly and splenomegaly, liver dysfunction, growth retardation, etc. In suspected diagnosed group,only 1 case was screened positive result for epinephrine stimulating test. Conclusion The clinical manifestations of hepatic glycogen storage disease are multiple. Therefore, physicians should have sufficient recognition for this disease and give a right and prompt diagnosis based on family history, physical examinations and laboratory findings.

Key words: hepatic glycogen storage disease, hepatomegaly, hypoglycemia

摘要：

目的 总结儿童肝糖原累积病的临床特点，以提高诊治水平，减少误诊率。方法 回顾性分析2007年5月至2013年11月中国医科大学附属盛京医院收治的5例确诊和7例疑似肝糖原累积病患者的临床特点及随访资料。结果 5例确诊患者中，2例存在首诊误诊，均以肝损害及生长发育迟缓为主要表现，有低血糖症状者2例，黄疸3例。有4例患者行肾上腺素激发试验均为阳性。进行2次随访发现确诊病例仍存在肝脾大、肝功能损伤、生长发育迟缓等表现。疑似病例仅1例行肾上腺素激发试验。结论 肝糖原累积病临床表现多样，鉴别诊断及确诊需要依赖进一步的肾上腺素激发试验、血液DNA检测或肝穿刺活检等手段。

关键词: 肝糖原累积病, 肝大 , 低血糖