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

Luca Frulloni, Chiara Scattolini, Rossella Graziani, Giulia Martina Cavestro, Cecilia Pravadelli, Antonio Amodio, Riccardo Manfredi, Aldo Scarpa, Italo Vantini

Research output: Contribution to journalArticlepeer-review

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 ± 17.2 years) than in CPwt (44 ± 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 <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.

Original languageEnglish
Pages (from-to)371-376
Number of pages6
JournalPancreas
Volume37
Issue number4
DOIs
Publication statusPublished - Nov 2008

Keywords

  • Cationic trypsinogen gene
  • Cystic fibrosis transmembrane conductance regulator gene
  • Diabetes
  • Exocrine pancreatic insufficiency
  • Mutation
  • Pancreatic secretory trypsin inhibitor gene
  • Pancreatitis

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism
  • Hepatology
  • Internal Medicine

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