Pathophysiology of the pancreatic defect in Johanson-Blizzard syndrome: a disorder of acinar development.
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.
Jones
N L
NL
Department of Pediatrics, Hospital for Sick Children, Toronto, Ontario, Canada.
Hofley
P M
PM
Durie
P R
PR
D016022:Case-Control Studies; D003089:Colipases / Q000032:analysis; D003241:Consanguinity; D003550:Cystic Fibrosis / Q000201:enzymology / Q000503:physiopathology; D010188:Exocrine Pancreatic Insufficiency / Q000201:enzymology / Q000503:physiopathology*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008049:Lipase / Q000032:analysis; D008286:Malabsorption Syndromes / Q000201:enzymology / Q000503:physiopathology; D008297:Male; D010179:Pancreas / Q000201:enzymology / Q000378:metabolism / Q000503:physiopathology*; D010182:Pancreatic Diseases / Q000201:enzymology / Q000503:physiopathology; D010183:Pancreatic Ducts / Q000201:enzymology / Q000378:metabolism; D013577:Syndrome; D014357:Trypsin / Q000032:analysis; D014362:Trypsinogen / Q000097:blood
D003089:Colipases; D014362:Trypsinogen; D008049:Lipase; D014357:Trypsin