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). No mutations were detected in the cationic pancreatic trypsinogen (PRSS1) and the pancreatic secretory trypsinogen inhibitor (SPINK1) genes. CFTRdele2,3(21 kb) has only been described in 2000 and is the second most frequent severe CFTR mutation after ΔF508 in central and eastern Europe. This haplotype should be included in the genetic panel when evaluating patients of central or eastern European genetic background for possible CFTR related pancreatitis.

Keywords:
Idiopathic pancreatitis, CFTR compound heterozygosity, CFTRdele2,3(21 kb), R117H, Cationic pancreatic trypsinogen, PRSS1, Pancreatic secretory trypsinogen inhibitor, SPINK1
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© 2005 S. Karger AG, Basel and IAP
2005
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