von Gierke disease (type Ia glycogen storage disease) is an inherited disease associated with accumulation of glycogen in the liver, kidney, intestine and erythrocytes due to the defect of glucose-6-phosphatase activity. Hepatomegaly, doll face, anemia, bleeding tendency and increased susceptability to infection are common features observed during infancy. Hypoglycemia especially fasting hypoglycemia is typical metabolic derangement in this disease, followed by metabolic acidosis, lactic acidemia, hyperlipidemia, hyperuricemia, and platelets dysfunction. We experienced a case of von Gierke disease in 6 month-old boy with doll face, hepatomegaly, fasting hypoglycemia, acidosis, anemia, hyperlipidemia, hyperuricemia, and acetonuria. Diagnosis was confirmed by light- and electron microscopic examination of liver biopsy specimen, which revealed hepatocytes filled with dense pools of glycogen and many lipid droplets. Cornstarch dietary therapy for him had favorable responses showing improvement of hypoglycemia, other metabolic derangements, and regression of hepatomegaly.
Acidosis ; Anemia ; Biopsy ; Diagnosis ; Erythrocytes ; Glucose-6-Phosphatase ; Glycogen ; Glycogen Storage Disease Type I* ; Hemorrhage ; Hepatocytes ; Hepatomegaly ; Humans ; Hyperlipidemias ; Hyperuricemia ; Hypoglycemia ; Infant ; Intestines ; Ketosis ; Kidney ; Liver ; Male ; Starch

von Gierke disease (type Ia glycogen storage disease) is an inherited disease associated with accumulation of glycogen in the liver, kidney, intestine and erythrocytes due to the defect of glucose-6-phosphatase activity. Hepatomegaly, doll face, anemia, bleeding tendency and increased susceptability to infection are common features observed during infancy. Hypoglycemia especially fasting hypoglycemia is typical metabolic derangement in this disease, followed by metabolic acidosis, lactic acidemia, hyperlipidemia, hyperuricemia, and platelets dysfunction. We experienced a case of von Gierke disease in 6 month-old boy with doll face, hepatomegaly, fasting hypoglycemia, acidosis, anemia, hyperlipidemia, hyperuricemia, and acetonuria. Diagnosis was confirmed by light- and electron microscopic examination of liver biopsy specimen, which revealed hepatocytes filled with dense pools of glycogen and many lipid droplets. Cornstarch dietary therapy for him had favorable responses showing improvement of hypoglycemia, other metabolic derangements, and regression of hepatomegaly.
Acidosis ; Anemia ; Biopsy ; Diagnosis ; Erythrocytes ; Glucose-6-Phosphatase ; Glycogen ; Glycogen Storage Disease Type I* ; Hemorrhage ; Hepatocytes ; Hepatomegaly ; Humans ; Hyperlipidemias ; Hyperuricemia ; Hypoglycemia ; Infant ; Intestines ; Ketosis ; Kidney ; Liver ; Male ; Starch

Primary biliary cirrhosis is a chronic, progressive liver disease characterized by inflammatory destruction of septal and intralobular bile ducts which results in intrahepatic cholestasis. Although the cause remains obscure, it is frequently associated with a variety of disorders presumed to be autoimmune in nature. We report a case of early primary biliary cirrhosis which was anteceded by rheumatoid arthritis. The patient was a 54-year-old female who was admitted due to arthralgia and joint deformity. She had been diagnosed as having rheumatoid arthritis 10 years before. On admission, she had elevated serum ALT, AST, alkaline phosphatase, gamma-GTP and positive serum antimitochondrial antibody test. Microscopic findings of the liver were consistent with the early stage of primary bi]iary cirrhosis.
Alkaline Phosphatase ; Arthralgia ; Arthritis, Rheumatoid* ; Bile Ducts ; Cholestasis, Intrahepatic ; Congenital Abnormalities ; Female ; Fibrosis ; Humans ; Joints ; Liver ; Liver Cirrhosis, Biliary* ; Liver Diseases ; Middle Aged

Background: Several studies have shown that elevated serum uric acid levels are associated with cardiovascular disease. High sensitivity C-reactive protein (hs-CRP) has been shown to be a measure of the severity and prognosis of cardiovascular disease. The aim of this study was to investigate the association of hs-CRP with hyperuricemia. Methods: From March 2016 to November 2017, a total of 26,987 patients who received a health check-up at a Soonchunhyang University Cheonan Hospital, Korea, were enrolled. Foreigners, patients who had hs-CRP score greater than 10 or white blood cell score greater than 10,000, those who did not respond sincerely, those who had previously been diagnosed with gout and cerebrovascular disease, and females were excluded. Data were collected from 2,808 patients. Results: The subjects were divided into four sections by 25th percentile, 50th percentile, 75th percentile, and 100th percentile based on the distribution of hs-CRP. Serum hs-CRP levels were 1.85 (1.34–2.56), 2.59 (1.90–3.54), and 3.64 (2.70–4.93) respectively in the second, third, and fourth quartiles based on the first quartile. The odds ratios were 1.46 (1.05–2.03), 1.76 (1.27–2.45), and 2.27 (1.64–3.14) after adjusting the disturbance variables of age, body mass index, smoking status, and regular exercise. Conclusion In this study, we evaluated the relationship between serum hs-CRP and hyperuricemia, which are the risk factors for cardiovascular disease, and found statistically significant correlations. These results were still significant after adjusting for age, smoking, exercise, and body mass index.