Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis

Gastroenterology. 2002 Dec;123(6):1857-64. doi: 10.1053/gast.2002.37042.


Background & aims: Pancreatitis is known to occur in some patients with cystic fibrosis (CF), but the prevalence, natural history, and genotypic basis are unclear. We examined a well-defined cohort of patients with CF to answer these questions.

Methods: Patients with CF were identified from a computerized database (1966-1996). Chart audit identified all patients with CF and pancreatitis.

Results: Among 1075 patients with CF, 937 (87%) were pancreatic insufficient at diagnosis, 28 (3%) were pancreatic sufficient but developed pancreatic insufficiency after diagnosis, and 110 (10%) have remained pancreatic sufficient. No patients with pancreatic insufficiency developed pancreatitis. Nineteen patients (17.3%) with pancreatic sufficiency experienced one or more attacks of pancreatitis. The mean age at diagnosis of pancreatitis was 22.7 +/- 10.3 years (range, 10-35 years), and pancreatitis was recognized before the diagnosis of CF in 6 patients (32%). The diagnosis of CF in pancreatic-sufficient patients, with and without pancreatitis, was established at a significantly older age than in those with pancreatic insufficiency (P < 0.0001). Genotyped patients with pancreatic insufficiency carried 2 severe mutant alleles. All genotyped patients with pancreatic sufficiency and pancreatitis carried at least one mild mutation. No specific genotype was predictive of pancreatitis.

Conclusions: Patients with CF with pancreatic sufficiency carry at least one mild mutant allele and are at a significant risk of developing pancreatitis. Symptoms of pancreatitis may precede the diagnosis of CF. Pancreatitis is associated with an otherwise mild CF phenotype.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Alleles
  • Cohort Studies
  • Cystic Fibrosis / complications*
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • Databases, Factual
  • Female
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Mutation / physiology
  • Pancreatitis / diagnosis
  • Pancreatitis / etiology*
  • Pancreatitis / genetics*
  • Pancreatitis / physiopathology
  • Phenotype
  • Prevalence
  • Prospective Studies


  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator