Yield of genetic testing in pancreatic disease as we know it in 1997

Choudari, C. P.; Stewart, Tessandra; Crabb, David W.; Fogel, E. L.; Sherman, S.; Lehman, GL

doi:10.1016/s0016-5085(98)81808-8

Cited by 2 publications

(1 citation statement)

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“…In particular, genetic testing was negative in two brothers with pancreatitis owing to familial hyperlipidemia and in four members with familial clustering of ACP. Recently, evidence for a genetic link between idiopathic or alcoholic CP and cystic fibrosis (9,10,21,22) or ␣1-antitrypsin (␣1-AT) deficiency was presented (23,24). The majority of these studies are based on small series and preliminary analysis.…”

Section: Discussionmentioning

confidence: 99%

Trypsinogen Gene Mutations in Patients with Chronic or Recurrent Acute Pancreatitis

Truninger

Köck

et al. 2001

Pancreas

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Three-point mutations (R117H, N211, A16V) within the cationic trypsinogen gene have been identified in patients with hereditary pancreatitis (HP). A genetic background has also been discussed for idiopathic juvenile chronic pancreatitis (IJCP), which closely mimicks the clinical pattern of HP, and alcoholic chronic pancreatitis because only a small number of heavy drinkers develop pancreatitis. This prompted us to screen 104 patients in our well-defined pancreatitis cohort for the currently known cationic trypsinogen gene mutations. The R117H mutation was detected in seven patients (six patients of two clinically classified HP families, one patient with clinically classified IJCP) and the A16V mutation in one IJCP patient. No cationic trypsinogen gene mutations were found in the remaining 96 patients with chronic and recurrent acute pancreatitis of various etiologies. Our results demonstrate the need for genetic testing to exclude HP, particularly in the presence of an atypical or unknown family history. In addition, cationic trypsinogen gene mutations are no predisposing factor in patients with chronic and recurrent acute pancreatitis of different etiologies.

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