Mutations of the Cystic Fibrosis Gene and Pancreatitis

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Abstract
In the September 3 issue, Sharer et al.1 and Cohn et al.2 reported an association between chronic pancreatitis and mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Sharer et al. concluded that none of their patients met the diagnostic criteria for cystic fibrosis, whereas Cohn et al. identified one patient as having an “atypical cystic fibrosis phenotype.” The diagnostic criteria established by a consensus panel of the Cystic Fibrosis Foundation3 require one or more characteristic phenotypic features and one of three laboratory findings: an elevated sweat chloride concentration on two occasions, the identification of two known CFTR mutations, and the demonstration of abnormal nasal epithelial ion transport.3 Any one of these three laboratory findings is sufficient for the diagnosis, and recurrent pancreatitis is listed as a phenotypic feature. According to these criteria, two of the patients in the study by Sharer et al. (Patients 9 and 15) and one of the patients in the study by Cohn et al. (Patient 1) had cystic fibrosis.