Clinical and radiological outcome of patients suffering from chronic pancreatitis associated with gene mutations.

Abstract
Objectives: Cystic fibrosis transmembrane conductance regulator
(CFTR), cationic trypsinogen gene (PRSS1), and serine protease
inhibitor kazal type 1 (SPINK1) gene mutations have been associated
with chronic pancreatitis (CP). The aim of this study was to compare
clinical and radiological findings in sporadic CP with (CPgm) and
without (CPwt) gene mutations.
Methods: Data from patients observed between 2001 and 2006 were
collected. All patients were tested for 25 CFTR gene mutations, for
R122H and N29I on the PRSS1 gene, and for N34S mutation on the
SPINK1 gene.
Results: We found 34 (17.2%) of 198 patients with CPgm, 23
(11.6%) of them on the CFTR gene, 11 (5.6%) on the SPINK1, and
none on the PRSS1 gene. The age at clinical onset was younger in
CPgm (36.2 T 17.2 years) than in CPwt (44 T 12.6 years; P = 0.005).
There were more heavy drinkers among CPwt (33%) than among
CPgm (9%; P = 0.003), and the same applied to smokers (69% vs
33%, respectively; P G 0.0001). In CPgm group, the onset of
pancreatic calcifications was observed more frequently in drinkers
and/or smokers. Exocrine and endocrine insufficiency occurred less
frequently and later in CPgm than in CPwt patients.
Conclusions: Clinical and radiological outcome differ in CPgm
compared with CPwt. Alcohol, even in small quantities, and cigarette
smoking influence the onset of pancreatic calcifications.
Key Words: pancreatitis, mutation, cystic fibrosis transmembrane
conductance regulator gene, pancreatic secretory trypsin inhibitor
gene, cationic trypsinogen gene, exocrine pancreatic insufficiency,