PATHOPHYSIOLOGY OF THE PANCREATIC DEFECT IN JOHANSON-BLIZZARD SYNDROME - A DISORDER OF ACINAR DEVELOPMENT

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