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)
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Feature
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Cationic Trypsinogen
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PSTI
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inheritance
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autosomal dominant with incomplete penetrance
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autosomal recessive (homozygous for gene)
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genetic locus
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chromosome 7q
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chromosome 5
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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
Complications:
(1) increased risk for pancreatic carcinoma
(2) calcified stones in the pancreatic duct
