关键词: 肝糖原累积病, 肝大 , 低血糖

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