Which hereditary disorders cause chronic pancreatitis?

Updated: Jul 15, 2019
  • Author: Jason L Huffman, MD; Chief Editor: BS Anand, MD  more...
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Answer

Several inherited disorders also are considered metabolic in origin. [8] Hereditary pancreatitis is an autosomal dominant disorder with an 80% penetrance, accounting for about 1% of cases. Research of families with hereditary pancreatitis has led to the identification of several mutations in the cationic trypsinogen gene on chromosome 7. These mutations apparently render the activated enzyme resistant to the second-line proteolytic control mechanisms. Mutations were found in the pancreatic secretory serine protease inhibitor Kazal type 1 (SPINK1) gene in 18 of 96 patients with idiopathic or hereditary chronic pancreatitis.


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