Association of pancreas divisum and recurrent acute pancreatitis with the IVS8-5T-12TG allele of the CFTR gene and CFTR dysfunction

• Published in: Pancreas Vol. 35; no. 1; pp. 90 - 93
• Main Authors: Dray, Xavier, Fajac, Isabelle, Bienvenu, Thierry, Chryssostalis, Ariane, Sogni, Philippe, Hubert, Dominique
• Format: Journal Article
• Language: English
• Published: United States 01-07-2007
• Subjects: Acute Disease; Adolescent; Adult; Alleles; Cystic Fibrosis - complications; Cystic Fibrosis - genetics; Cystic Fibrosis - pathology; Cystic Fibrosis Transmembrane Conductance Regulator - genetics; Cystic Fibrosis Transmembrane Conductance Regulator - metabolism; Endoscopy, Gastrointestinal; Female; Genotype; Humans; Pancreas - abnormalities; Pancreas - pathology; Pancreatitis - etiology; Pancreatitis - genetics; Pancreatitis - pathology; Point Mutation
• DOI: 10.1097/MPA.0b013e318054771f
• EISSN: 1536-4828
• ISSN: 0885-3177

Pancreas divisum (PD) occurs in approximately 10% of individuals. Although a minority of patients with PD develop acute pancreatitis (AP), PD is found in up to 25% of patients with unexplained AP. Mild mutations or variants of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, including the IVS8-5T variant, are associated with idiopathic pancreatitis, but their relationship with PD is unknown. We hypothesized for such association.
Case of 2 patients with PD, recurrent AP, and CFTR-related disease are reported.
Both patients had similar clinical patterns (young female adults, nonsevere onsets of AP, mild upper airway manifestations, no major clinical criteria for cystic fibrosis). They had 2 mutations or variants of the CFTR gene (including the IVS8-5T-12TG allele) and mild abnormalities of the CFTR function (increased sweat chloride concentrations in one patient, normal basal but low responses to low-chloride and/or isoproterenol solutions on nasal potential difference).
These observations suggest that impaired epithelial ion transport due to mild CFTR genotype (namely, IVS8-5T-TG12) might be involved as a triggering factor in acute onsets of pancreatitis in PD, possibly through abnormal pancreatic fluid secretion. Further studies on CFTR mutations and abnormal nasal airway ion transport in patients with PD, either with or without recurrent AP, should be conducted.