Some families exhibit hereditary pancreatitis in their members.
Genetic products affected:
(1) cationic trypsinogen. Mutant trypsin is resistant to inactivation, resulting in autodigestion of the pancreas.
(2) pancreatic secretory trypsin inhibitor (PSTI, also referred to as SPINK1 or Kazal type 1)
autosomal dominant with incomplete penetrance
autosomal recessive (homozygous for gene)
A mutation in exon 2 of the cationic trypsinogen gene is associated with adult onset while a mutation in exon 3 is associated with childhood onset.
Clinical and laboratory features:
(1) recurrent episodes of severe abdominal pain in 2 or more family members
(2) biochemical findings of acute pancreatitis
(3) exclusion of other conditions causing pancreatitis
(1) increased risk for pancreatic carcinoma
(2) calcified stones in the pancreatic duct
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