Subject(s)
Pediatrics/history , Trypsinogen/deficiency , Trypsinogen/history , Child , Child, Preschool , Deficiency Diseases/history , Female , History, 20th Century , Humans , Male , Ohio , Periodicals as Topic/historyABSTRACT
Despite the recent development of medical imaging technology, chronic pancreatitis can only be diagnosed when the disease is fully established. This is due to the lack of specific and sensitive markers for this disease. The discovery of mutations in the cationic trypsinogen gene in patients with hereditary pancreatitis and a high incidence of mutations in the cystic fibrosis transmembrane conductance regulator gene in patients with chronic pancreatitis might be important clues to understanding the molecular mechanisms of this disease. The interaction between ethanol and ion channels might be the missing link between alcohol ingestion and chronic pancreatitis.
Subject(s)
Cystic Fibrosis Transmembrane Conductance Regulator/genetics , Pancreatitis/genetics , Trypsinogen/genetics , Adult , Aged , Alcoholism/complications , Amino Acid Substitution , Animals , Biomarkers , Chloride Channels/drug effects , Chloride Channels/metabolism , Chronic Disease , Cystic Fibrosis Transmembrane Conductance Regulator/deficiency , Dogs , Ethanol/pharmacology , Female , Genetic Predisposition to Disease/genetics , Humans , Male , Middle Aged , Models, Biological , Pancreatitis/enzymology , Pancreatitis/etiology , Point Mutation , Protein Conformation , Trypsin/metabolism , Trypsinogen/chemistry , Trypsinogen/deficiencyABSTRACT
Exocrine pancreatic insufficiency usually does not develop before reduction of enzyme output by more than 90%. Patients with pancreatic insufficiency have a ravenous appetite but fail to thrive from malnutrition. The caloric deprivation is primarily due to fat malabsorption, recognized by the passage of bulky foul smelling greasy stools. Several isolated enzyme deficiencies can be separated from diseases with generalised pancreatic insufficiency. Under replacement therapy with pancreatic enzyme supplements most patients improve and gain weight, although fat and bile acid malabsorption are not abolished.