Relapsing pancreatitis due to a novel compound heterozygosity in the CFTR gene involving the second most common mutation in central and eastern Europe [CFTRdele2,3(21 kb)].

A 43-year-old otherwise healthy female patient presented with mild pancreatitis. Her family history revealed that her only son had cystic fibrosis. Genotyping of the patient demonstrated CFTR compound heterozygosity CFTRdele2,3(21 kb) and R117H and wild type alleles of the poly-T-tract in intron 8 (7T/7T).