ABCMdb

PMID: 22781910

Patel H, Levine J, Weinstein T
Combination of CFTR gene mutation and autoimmune pancreatitis presenting as necrotizing pancreatitis.
Pancreas. 2012 Aug;41(6):970-1., [PubMed]

Sentences

No. Mutations Sentence Comment

12 ABCC7 p.Arg75Gln Genetic testing revealed a heterozygous presence of R75Q variant CFTR gene. Login to comment 23 ABCC7 p.Arg75Gln Elevated levels of IgG4 are felt to be the best markers of AIP, with a sensitivity of 73.3% and a specificity of 95.1%.8 Despite lack of histology and the decision to hold on systemic steroid therapy, given the clinical, radiographic, and laboratory findings, our patient met the criteria for AIP based on the criteria stated by the Japanese Pancreas Society.9Y11 In children, CF associated with CFTR gene mutations is the most common cause of chronic and recurrent pancreatitis.4,12 A recent study of pancreatic-sufficient CF patients determined that patients with genotypes associated with mild phenotypic effects (at least one CFTR mutation) had a greater risk of developing pancreatitis than patients with more severe phenotypes.12 The CFTR gene, R75Q, found in our patient was tested as a part of a multicenter study. Login to comment 24 ABCC7 p.Arg75Gln ABCC7 p.Arg75Gln ABCC7 p.Arg75Gln Patients with a combined mutation in both SPINK-1 and CFTR R75Q were found to have a higher risk of pancreatitis.13 The conclusions drawn from this study were that the combination of a CFTR gene R75Q and SPINK-1 mutation increases the risk of chronic pancreatitis in a multiplicative manner.13 One could speculate from this study that the presence of the CFTR R75Q gene may carry a more significant and severe risk of pancreatitis in the setting of other risk factors or underlying etiologies, such as hereditary pancreatitis, pancreatic duct divisum, or AIP. Login to comment