title: Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis.
abstract: BACKGROUND
  It is unknown whether genetic factors predispose patients to idiopathic pancreatitis. In patients with cystic fibrosis, mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene typically cause pulmonary and pancreatic insufficiency while rarely causing pancreatitis. We examined whether idiopathic pancreatitis is associated with CFTR mutations in persons who do not have lung disease of cystic fibrosis.
  
  
  METHODS
  We studied 27 patients (mean age at diagnosis, 36 years), 22 of whom were female, who had been referred for an evaluation of idiopathic pancreatitis. DNA was tested for 17 CFTR mutations and for the 5T allele in intron 8 of the CFTR gene. The 5T allele reduces the level of functional CFTR and is associated with an inherited form of infertility in males. Patients with two abnormal CFTR alleles were further evaluated for unrecognized cystic fibrosis-related lung disease, and both base-line and CFTR-mediated ion transport were measured in the nasal mucosa.
  
  
  RESULTS
  Ten patients with idiopathic chronic pancreatitis (37 percent) had at least one abnormal CFTR allele. Eight CFTR mutations were detected (prevalence ratio, 11:1; 95 percent confidence interval, 5 to 23; P<0.001). In three patients both alleles were affected (prevalence ratio, 80:1; 95 percent confidence interval, 17 to 379; P<0.001). These three patients did not have lung disease typical of cystic fibrosis on the basis of sweat testing, spirometry, or base-line nasal potential-difference measurements. Nonetheless, each had abnormal nasal cyclic AMP-mediated chloride transport.
  
  
  CONCLUSIONS
  In a group of patients referred for evaluation of idiopathic pancreatitis, there was a strong association between mutations in the CFTR gene and pancreatitis. The abnormal CFTR genotypes in these patients with pancreatitis resemble those associated with male infertility.
authors.affiliation: Department of Medicine, Veterans Affairs and Duke University Medical Centers, Durham, NC 27710, USA.
authors.forename: J A
authors.initials: JA
authors.lastname: Cohn
authors.forename: K J
authors.initials: KJ
authors.lastname: Friedman
authors.forename: P G
authors.initials: PG
authors.lastname: Noone
authors.forename: M R
authors.initials: MR
authors.lastname: Knowles
authors.forename: L M
authors.initials: LM
authors.lastname: Silverman
authors.forename: P S
authors.initials: PS
authors.lastname: Jowell
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002712:Chlorides / Q000032:analysis / Q000378:metabolism; D002908:Chronic Disease; D003550:Cystic Fibrosis / Q000175:diagnosis; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009297:Nasal Mucosa / Q000378:metabolism; D010195:Pancreatitis / Q000209:etiology / Q000235:genetics* / Q000503:physiopathology; D010641:Phenotype; D013542:Sweat / Q000737:chemistry
chemical_list: C505032:CFTR protein, human; D002712:Chlorides; D019005:Cystic Fibrosis Transmembrane Conductance Regulator