Abstract
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.
Publication types
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Case Reports
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Case-Control Studies
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Colipases / analysis
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Consanguinity
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Cystic Fibrosis / enzymology
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Cystic Fibrosis / physiopathology
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Exocrine Pancreatic Insufficiency / enzymology
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Exocrine Pancreatic Insufficiency / physiopathology*
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Female
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Humans
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Infant
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Infant, Newborn
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Lipase / analysis
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Malabsorption Syndromes / enzymology
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Malabsorption Syndromes / physiopathology
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Male
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Pancreas / enzymology
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Pancreas / metabolism
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Pancreas / physiopathology*
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Pancreatic Diseases / enzymology
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Pancreatic Diseases / physiopathology
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Pancreatic Ducts / enzymology
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Pancreatic Ducts / metabolism
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Syndrome
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Trypsin / analysis
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Trypsinogen / blood
Substances
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Colipases
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Trypsinogen
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Lipase
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Trypsin