Mutations of the CFTR gene in pancreatic disease.
BACKGROUND
An association has been found between CFTR gene mutations and chronic pancreatitis; however, there is a lack of information about the frequency of CFTR gene mutations in acute pancreatitis and in pancreatic cancer.


OBJECTIVE
To prospectively evaluate the prevalence of CFTR gene mutations in acute pancreatitis, chronic pancreatitis, and pancreatic cancer.


METHODS
Ninety-eight consecutive patients were studied and divided into 3 groups: 34 patients with acute pancreatitis, 46 patients with chronic pancreatitis, and 18 patients with pancreatic cancer. The mutation analysis of the CFTR gene was carried out using diagnostic commercial kits for the simultaneous detection of 29 mutations and Tn polymorphism.


RESULTS
Among the 98 patients studied, 12 (12.2%) had CFTR gene mutations: 2 of the 34 patients (5.9%) with acute pancreatitis, 9 of the 46 (19.6%) with chronic pancreatitis, and 1 of the 18 (5.6%) with pancreatic cancer. All the mutations were found in heterozygosis (2 DeltaF508, 1 W1282X, and 9 T5 allele).


CONCLUSIONS
Our prospective study adds further information about the frequency of CFTR mutations in patients with a single episode of acute pancreatitis. Furthermore, our results suggest an association of CFTR gene mutations with chronic alcoholic pancreatitis and emphasize the need for a multicenter study, possibly multinational, to conclusively establish the role of CFTR mutations as a genetic susceptibility factor for this disease.
Pezzilli
Raffaele
R
Department of Internal Medicine and Gastroenterology, Sant'Orsola-Malpighi Hospital, University of Bologna, Italy. pezzilli@orsola-malpighi.med.unibo.it
Morselli-Labate
Antonio Maria
AM
Mantovani
Vilma
V
Romboli
Elisabetta
E
Selva
Paola
P
Migliori
Marina
M
Corinaldesi
Roberto
R
Gullo
Lucio
L
D000208:Acute Disease; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010182:Pancreatic Diseases / Q000235:genetics* / Q000473:pathology; D010190:Pancreatic Neoplasms / Q000235:genetics / Q000473:pathology; D010195:Pancreatitis / Q000235:genetics / Q000473:pathology; D011446:Prospective Studies
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator