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


METHODS
Case of 2 patients with PD, recurrent AP, and CFTR-related disease are reported.


RESULTS
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).


CONCLUSIONS
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.
Dray
Xavier
X
Département de Pathologie Digestive, APHP, Hôpital Lariboisière, Paris, France.
Fajac
Isabelle
I
Bienvenu
Thierry
T
Chryssostalis
Ariane
A
Sogni
Philippe
P
Hubert
Dominique
D
D000208:Acute Disease; D000293:Adolescent; D000328:Adult; D000483:Alleles; D003550:Cystic Fibrosis / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics* / Q000378:metabolism; D016099:Endoscopy, Gastrointestinal; D005260:Female; D005838:Genotype; D006801:Humans; D010179:Pancreas / Q000002:abnormalities* / Q000473:pathology; D010195:Pancreatitis / Q000209:etiology / Q000235:genetics* / Q000473:pathology*; D017354:Point Mutation
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator