Risk of pancreatitis with mutation of the cystic fibrosis gene.
BACKGROUND
Between 5% and 15% of patients with recurrent pancreatitis have no identified etiology after routine investigation and advanced endoscopic evaluation.


OBJECTIVE
To determine whether mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is a risk factor for idiopathic pancreatitis.


METHODS
We compared the frequency of CFTR mutations as measured by DNA probe analysis in a case group of persons with idiopathic pancreatitis and a control group without pancreatitis, all of whom underwent endoscopic retrograde cholangiopancreatography. A separate analysis compared the prevalence of CFTR mutations between the case group and controls with pancreatitis of known etiology. A subgroup comparison was made between cases of pancreas divisum with pancreatitis and controls with pancreas divisum and no pancreatitis.


RESULTS
CFTR mutations were present in 19 (19%) of 96 cases and 7 (3.5%) of 198 controls without pancreatitis (odds ratio, OR = 6.7; 95% CI, 2.8-16.3; p < 0.00001). Compared to the controls with a known cause of pancreatitis (N = 78), cases had a higher prevalence of CFTR mutations (19% vs 2.6%, OR = 9.4; CI, 2.1-41.7; p= 0.0005). Among subjects with pancreas divisum, CFTR mutations were present in 8 (22%) of 37 cases compared to 0 (0%) of 20 controls (OR = 11.8; CI, 8.9-14.7; p= 0.02).


CONCLUSIONS
The risk of idiopathic pancreatitis is greater among persons with CFTR mutations as compared to persons without CFTR mutations. Among persons with pancreas divisum, CFTR mutations appear to increase the risk for pancreatitis.
Choudari
C P
CP
Division of Gastroenterology and Hepatology, Indiana University, Indianapolis, Indiana, USA.
Imperiale
Thomas F
TF
Sherman
Stuart
S
Fogel
Evan
E
Lehman
Glen A
GA
D000293:Adolescent; D000328:Adult; D000368:Aged; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D015342:DNA Probes; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010179:Pancreas / Q000002:abnormalities; D010195:Pancreatitis / Q000235:genetics*; D012307:Risk Factors
C505032:CFTR protein, human; D015342:DNA Probes; D019005:Cystic Fibrosis Transmembrane Conductance Regulator