Hereditary pancreatitis

Definition:

Hereditary pancreatitis is a very rare form of chronic relapsing pancreatitis. Its inheritance mode is autosomal dominant with an incomplete penetrance (80%). Patients had recurrent pancreatitis with impairment of endocrine and exocrine pancreatic function, maldigestion, bile duct and duodenal obstruction, and rarely pancreatic cancer. The age of onset is early and differs from the cases of non-hereditary pancreatitis.

References:

[1]. D C Whitcomb, et al. Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. Nat Genet. 1996 Oct;14(2):141-5. [Content Brief]

[2]. Emmanuelle Masson, et al. Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis. Hum Genet. 2008 Feb;123(1):83-91. [Content Brief]

[3]. H Witt, et al. Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. Nat Genet. 2000 Jun;25(2):213-6. [Content Brief]

[4]. Heiko Witt, et al. A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis. Nat Genet. 2006 Jun;38(6):668-73. [Content Brief]

[5]. Jonas Rosendahl, et al. Hereditary chronic pancreatitis. Orphanet J Rare Dis. 2007 Jan 4;2:1. [Content Brief]

[6]. N Sharer, et al. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. N Engl J Med. 1998 Sep 3;339(10):645-52. [Content Brief]

[7]. Satoru Naruse, et al. Is genetic analysis helpful for diagnosing chronic pancreatitis in its early stage?. J Gastroenterol. 2007 Jan;42 Suppl 17:60-5. [Content Brief]

[8]. Vinciane Rebours, et al. An overview of hereditary pancreatitis. Dig Liver Dis. 2012 Jan;44(1):8-15. [Content Brief]

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