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)]

• Published in: Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] 2005, Vol.5 (1), p.92-96
• Main Authors: Lamprecht, Georg, Mau, Ulrike A., Kortüm, Christian, Raible, Armin, Stern, Martin, Rieß, Olaf, Gregor, Michael, Keim, Volker
• Format: Article
• Language: English
• Subjects: Adult; Case Report; Cationic pancreatic trypsinogen; CFTR compound heterozygosity; CFTRdele2,3(21 kb); Cystic Fibrosis Transmembrane Conductance Regulator - genetics; Female; Genetic Predisposition to Disease; Heterozygote; Humans; Idiopathic pancreatitis; Mutation; Pancreatic secretory trypsinogen inhibitor; Pancreatitis - genetics; Pancreatitis - physiopathology; PRSS1; R117H; Recurrence; SPINK1
• ISSN: 1424-3903; 1424-3911
• DOI: 10.1159/000084495

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.