CFTR gene mutation in patients with apparently idiopathic pancreatitis: lack of phenotype-genotype correlation

Background and aims: Despite an extensive search, no cause is found for recurrent acute/chronic pancreatitis (idiopathic pancreatitis (IP)) in about 20% of patients. In these patients, CFTR gene mutations may be identified. The aims of this study were (1) to describe the natural history of pancreatitis associated with the CFTR mutation, (2) to look for genotype-phenotype correlations, and (3) to examine the frequency of CFTR mutations in a population of patients with IP.

Results: 100 consecutive patients with IP were included between 1998 and 2005. 50% had one of the 33 most frequent CFTR gene mutations (common CF mutations, uncommon mutations causing variable phenotypes and variants of unknown significance in 28, 44 and 28%, respectively). Patients with a CFTR gene mutation were significantly younger than those without (34 vs. 40 years, p = 0.03). Duration of follow-up (3.5 vs. 3 years), proportion of patients with acute pancreatitis as first symptom (76 vs. 74%) were not significantly different. Signs of chronic pancreatitis (ductal changes and pancreatic calcifications), pseudocysts, common bile duct stenosis, exocrine or endocrine insufficiency occurred in 36, 26, 4, 10 and 12% of patients with CFTR gene mutations respectively, which was not different from patients without mutations. No phenotype-genotype correlation was observed.

Conclusions: In patients with IP, clinical and radiological manifestations are not related to the presence of a CFTR gene mutation or to the type of mutation.