trypsinogen and Malabsorption-Syndromes

Topics: Abdominal Pain; Alcohol Drinking; Chronic Disease; Diabetes Mellitus; Fibrosis; Gallstones; Humans; Hypercalcemia; Hyperlipidemias; Malabsorption Syndromes; Mutation; Pancreas; Pancreatitis; Risk Factors; Smoking; Trypsin; Trypsinogen

To characterize the time course and physiologic significance of decline in serum immunoreactive trypsinogen (IRT) levels in infants with cystic fibrosis (CF) by mode of diagnosis and genotype, and to examine IRT heritability.. We studied longitudinal IRT measurements in 317 children with CF. We developed statistical models to describe IRT decline. Pancreatic disease severity (Mild or Severe) was assigned using CF genotype and was confirmed in 47 infants through fat malabsorption studies.. Infants with severe disease exhibited IRT decline with non-detectable levels typically seen by 5 years of age. Infants with mild disease exhibited a decline in the first 2 years, asymptomatically approaching a level greater than published norms. IRT and fecal fat were inversely correlated. IRT values in infants with meconium ileus (MI) were significantly lower than newborn-screened infants at birth. The high proportion of shared variation in predicted IRT values among sibling pairs with severe disease suggests that IRT is heritable.. IRT declines characteristically in infants with CF. Lower IRT values in newborns with MI suggest increased pancreatic injury. Furthermore, IRT is heritable among patients with severe disease suggesting genetic modifiers of early CF pancreatic injury. This study demonstrates heritability of a statistically modeled quantitative phenotype.

Topics: Biomarkers; Body Height; Body Weight; Chlorides; Cystic Fibrosis; DNA Mutational Analysis; Fats; Feces; Female; Follow-Up Studies; Genetic Predisposition to Disease; Genotype; Humans; Ileus; Infant, Newborn; Longitudinal Studies; Malabsorption Syndromes; Male; Neonatal Screening; Predictive Value of Tests; Severity of Illness Index; Sweat; Trypsinogen; Vitamins

We compared pancreatic acinar and ductal secretion in two patients with Johanson-Blizzard syndrome, age-matched control subjects, and patients with other primary pancreatic diseases. Patients with Johanson-Blizzard syndrome had preservation of ductular output of fluid and electrolytes, as in patients with Shwachman syndrome but differing from those with cystic fibrosis, who have a primary ductular defect. They also had decreased acinar secretion of trypsin, colipase and total lipase, and low serum immunoreactive trypsinogen levels, consistent with a primary acinar cell defect.

Topics: Case-Control Studies; Colipases; Consanguinity; Cystic Fibrosis; Exocrine Pancreatic Insufficiency; Female; Humans; Infant; Infant, Newborn; Lipase; Malabsorption Syndromes; Male; Pancreas; Pancreatic Diseases; Pancreatic Ducts; Syndrome; Trypsin; Trypsinogen

Topics: Biopsy; Celiac Disease; Coloring Agents; Feces; Humans; Intestine, Small; Malabsorption Syndromes; Pancreatic Function Tests; Radioimmunoassay; Trypsinogen; Xylose

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.

Topics: Amino Acid Metabolism, Inborn Errors; Amylases; Cystic Fibrosis; Enteropeptidase; Enzyme Therapy; Exocrine Pancreatic Insufficiency; Humans; Intestinal Absorption; Kwashiorkor; Lipase; Lipid Metabolism; Malabsorption Syndromes; Trypsinogen

Topics: Endopeptidases; Enteropeptidase; Humans; Infant; Intestines; Malabsorption Syndromes; Male; Trypsinogen

The concentration in serum of cathodal trypsinogen has been studied in certain clinical and experimental situations. The concentration correlated with pancreatic amylase activity. Low levels were found in patients with malabsorption due to exocrine pancreatic insufficiency. The concentration rose after endoscopic retrograde cholangiopancreatographic examinations (ERCP). After ERCP, however, no trypsin was detected complexed with protease inhibitors, as is generally found in acute pancreatitis. The trypsinogen concentration in serum also rose in renal failure indicating a renal elimination route for the endogenous trypsinogen.

Topics: Amylases; Endoscopy; Humans; Kidney Failure, Chronic; Malabsorption Syndromes; Pancreas; Pancreatic Diseases; Pancreatic Juice; Pancreatitis; Radiography; Trypsinogen

Topics: Celiac Disease; Duodenum; Endopeptidases; Enteropeptidase; Glucagon; Humans; Intestinal Mucosa; Malabsorption Syndromes; Trypsin; Trypsinogen

Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant; Infant Food; Malabsorption Syndromes; Pancreatic Function Tests; Protein Hydrolysates; Protein-Energy Malnutrition; Trypsinogen