Clinical Description Of49Cases Of Glycogen Storage Disease

Objective: To summarize the clinical manifestation, laboratory test result,and liver pathological features of hepatic Glycogen storage disease (GSD)patients.Methods:49cases with hepatic GSD from the First Affiliated Hospitalof Guangxi Medical University between January2003and December2011wereretrospectively analyzed and summarized for their clinical manifestations,laboratory tests result, and liver pathology features.Results:1. There were17female and32male in this study, the averageage when they go to our hospital was3.56±4.32years, only8cases diagnosedafter5year old.2. Clinical manifestations: the most common sign in our studywas protruded abdomen and hepatomegaly that can be seen in all of the casesfollowed by splenomegaly (42.9%) and growth retardation (12.2%).3.Laboratory and other test result:37(75.5%) cases have hypoglycemia, in which5of them have glucose values <2.0mmol/L. There were15cases from total47cases who did the blood cholesterol test diagnosed with hypercholesterolemia,9cases from total35cases who did the blood triglyceride test diagnosed withhypertriglyceridemia, and22cases from total28cases who did the blood uricacid test diagnosed with hyperuricemia. Alanine transaminase (ALT) values in 41(83.7%) cases was higher than the normal values, Aspartate aminotransferase(AST) values in46(93.9%) cases was higher than the normal values, Gamma-glutamyl transpeptidase (GGT) values in38(77.6%) patients was higher thanthe normal values, and only1(2.0%) patient have Alkaline phosphatase (ALP)above the normal values. Lactate acid (Lact) test from28cases shows that in22(44.9%) cases they have Lact above the normal values. The majority (74.5%) ofall cases have anemia with hemoglobin values range from90.00-120.00g/L.Ultrasound test performed in42cases did not found any sign of liver adenoma.All cases did not have any abnormality on electrocardiogram (ECG) test.4.Liver pathology: Only28out of49cases did liver biopsy test, half of those whodid the test have distention of the liver cells by glycogen without any periportalfibrosis or steatosis,11cases have periportal fibrosis, and3cases showssteatosis.Conclusion:1. Hepatic GSD cases was found in quite young ageespecially before5year old.2. Protruded abdomen, hepatomegaly, andsplenomegaly is the most dominant clinical features.3. Liver function testshows that ALT, AST, and GGT was higher than the normal values in themajority of cases. Hypoglycemia, hyperuricemia, hyperlactatemia and anemiawas also a common result in our laboratory test.4. The common feature of liverpathology was distention of the liver cells by glycogen followed by periportalfibrosis and steatosis.5. GSD is a rare condition, we only have49cases in8year, but it should be taken into account for differential diagnosis wheneverconfronted with hepatomegaly and/or hypoglycemia.