Recurrent Pancreatitis Associated with CFTR Heterozygous Mutation

Main Article Content

Tuğçe Şevval Yıldız*
Şeyma Şenocak

Abstract

This case report discusses a 74-year-old male patient diagnosed with recurrent pancreatitis associated with a CFTR heterozygous mutation. The patient presented with complaints of epigastric pain, and laboratory findings revealed elevated amylase and lipase levelsGenetic testing revealed a p.Phe1052Val (c.3154T>G) heterozygous mutation in the CFTR gene, which has been associated with recurrent pancreatitis through autosomal dominant inheritance. A cystic lesion detected in the pancreas (suggestive of IPMN or serous cystic neoplasm) was evaluated for malignancy and deemed low-risk based on PET-CT findings and a negative CA 19-9 level. This case is presented to emphasize that CFTR mutations should be considered in the differential diagnosis of patients with recurrent pancreatitis, that symptoms may present in adulthood, and that the diagnosis can be easily established through genetic testing.

Article Details

Yıldız, T. Şevval, & Şenocak, Şeyma. (2025). Recurrent Pancreatitis Associated with CFTR Heterozygous Mutation. Archives of Case Reports, 9(1), 008–010. https://doi.org/10.29328/journal.acr.1001121
Case Reports

Copyright (c) 2025 Yıldız TS, et al.

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

Rowe SM, Miller S, Sorscher EJ. Cystic fibrosis. N Engl J Med. 2005;352(19):1992-2001. Available from: https://doi.org/10.1056/nejmra043184

Ooi CY, Durie PR. Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis. Gut. 2010;59(5):704-9

Bishop MD, Freedman SD, Zielenski J, Ahmed N, Dupuis A, Martin S, et al. The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis. Hum Genet. 2005;118(3-4):372-81. Available from: https://doi.org/10.1007/s00439-005-0059-z

Malats N, Casals T, Porta M, Guarner L, Estivill X, Real FX. CFTR gene mutations and the risk of exocrine pancreatic cancer. Gut. 2001;48(1):70-4. Available from: https://doi.org/10.1136/gut.48.1.70