• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• v.2 no.2
• /
• pp.194-203
• /
• 1999

Purpose: Childhood pancreatitis has more various and somewhat different etiology than adult. Until now the analysis of severity in childhood pancreatitis were not well-known, although several studies have been made. Therefore, we studied the etiology and complications in childhood pancreatitis and analyzed whether Ranson and CT criteria could be applicated to evaluate the severity of childhood pancreatitis patients. Methods: The records of 30 patients with pancreatitis under 15 years of ages who were diagnosed in Asan medical center were reviewed. Age, sex, history, etiology, clinical features and treatment was reviewed in all patients but complications, Ranson and CT criteria were available in only 12 patients. Correlation between the number of complications and both Ranson and CT criteria were calculated with Spearman correlation coefficient. Results: 1. Median age at diagnosis was 7.3 years of age. 28 cases were acute pancreatitis and 2 cases were chronic pancreatitis. 2. Etiology: choledochal cyst(8 cases), drug (7 cases), trauma (4 cases), infection (3 cases), biliary stone or bile sludge (3 cases), idiopathic (2 cases) Hemolytic uremic syndrome, pancreatic duct obstruction, iatrogenic (1 case). 3. Local complications were ascites (5 cases), pseudocyts (4 cases) and systemic complications were hyperglycemia (4 cases), hypocalcemia (3 cases), pleural effusion (3 cases), etc. 4. Positive correlation was found between the number of complication and Ranson creteria (r=0.78, P=0.0016) and between the number of complication and CT criteria (r=0.65, P=0.015) in 13 cases. Conclusion: A trial to search the biliary duct anomaly may help to find the causes of childhood idiopathic pancreatitis, and both Ranson and CT criteria can be applicated to pediatric patients to evaluate the severity of childhood pancreatitis.

• Journal of Genetic Medicine
• /
• v.4 no.1
• /
• pp.72-79
• /
• 2007

Purpose : Glycogen storage disease type III (GSD-III) is a rare autosomal recessive disorder of glycogen metabolism. The affected enzyme, amylo-1,6-glucosidase, 4-alpha-glucanotransferase (AGL, glycogen debranching enzyme), is responsible for the debranching of the glycogen molecule during catabolism. The disease shows clinical and biochemical heterogeneity, reflecting genotype-phenotype heterogeneity among different patients. In this study, we aim at analyzing mutations of the AGL gene in three unrelated Korean GSD-III patients, and characterizing their clinical and laboratory findings. Methods : We characterized the clinical features of three unrelated Korean GSD-III patients by biochemical, histological and imaging studies. The 35 exons and part of exon-intron boundaries of AGL were analyzed by direct sequencing using genomic DNA extracted from the peripheral leukocytes of patients. Results : Diverse clinical features were observed in these patients including hepatomegaly (all patients), seizures (patient 2), grow th failure (patients 1 and 2), hyperlipidemia (patients 1 and 3), raised transaminase and creatine kinase concentrations (all patients), and mild cardiomyopathy (patient 2). Liver transplantation w as performed in patient 2 due to progressive hepatic fibrosis. A dministration of uncooked corn starch maintained normoglycemia and improved biochemical and growth profiles. DNA sequence analysis revealed mutations in 5 out of 6 alleles. Patient 1 was a compound heterozygote of c.1282 G>A (p.R428K) and c.1306delA (p.S603PfsX6), patient 2 had c.1510_1511insT (p.Y 504L fsX 10), and patient 3 had c.3416 T >C (p.L 1139P) and c.1735+1 G>T (p.Y 538_R578delfsX 4) mutations. A part from the p.R428K mutation, the 4 other substitutions identified w ere nov el. Conclusion : GSD-III patients display variable phenotypic characteristics resembling those of GSD-Ia. Molecular defects in the AGL gene of Korean GSD-III patients are genetically heterogeneous.