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Hereditary pancreatitis information


Hereditary pancreatitis
This condition is inherited in an autosomal dominant manner

Hereditary pancreatitis (HP) is an inflammation of the pancreas due to genetic causes. It was first described in 1952 by Comfort and Steinberg[1] but it was not until 1996 that Whitcomb et al[2] isolated the first responsible mutation in the trypsinogen gene (PRSS1) on the long arm of chromosome seven (7q35).

The term "hereditary pancreatitis" is used when a genetic biomarker is identified, and "familial pancreatitis" otherwise.[3]

  1. ^ Comfort MW, Steinberg AG (May 1952). "Pedigree of a family with hereditary chronic relapsing pancreatitis". Gastroenterology. 21 (1): 54–63. doi:10.1016/S0016-5085(52)80120-9. PMID 14926813.
  2. ^ Whitcomb DC, Gorry MC, Preston RA, et al. (October 1996). "Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene". Nat. Genet. 14 (2): 141–5. doi:10.1038/ng1096-141. PMID 8841182. S2CID 21974705.
  3. ^ Cheifetz, Adam S.; Brown, Alphonso; Curry, Michael; Alan C. Moss (2011-03-10). Oxford American Handbook of Gastroenterology and Hepatology. Oxford University Press US. pp. 223–. ISBN 978-0-19-538318-8. Retrieved 9 August 2011.

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