Chronic pancreatitis other diagnostic studies

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Iqra Qamar M.D.[2]

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Overview

Other diagnostic studies may include genetic testing such as CFTR-cystic fibrosis gene mutation, SPINK-1, which encodes for trypsin inhibitor and PRSS-1 gene linked to hereditary pancreatitis. Routine genetic testing is usually not recommended for CFTR and SPINK-1 genes as it is expensive, do not alter the management and false positive results.

Other Diagnostic Studies

Other diagnostic studies may include:

Genetic testing
- CFTR-Cystic fibrosis gene mutation^[1]^[2]
- SPINK-1, which encodes for trypsin inhibitor^[3]
- PRSS-1 gene linked to hereditary pancreatitis

Routine genetic testing is usually not recommended for CFTR and SPINK-1 genes as it is
- Expensive
- Do not alter the management
- False positive results

References

↑ Bishop MD, Freedman SD, Zielenski J, Ahmed N, Dupuis A, Martin S, Ellis L, Shea J, Hopper I, Corey M, Kortan P, Haber G, Ross C, Tzountzouris J, Steele L, Ray PN, Tsui LC, Durie PR (2005). “The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis”. Hum. Genet. 118 (3–4): 372–81. doi:10.1007/s00439-005-0059-z. PMID 16193325.
↑ Ooi CY, Gonska T, Durie PR, Freedman SD (2010). “Genetic testing in pancreatitis”. Gastroenterology. 138 (7): 2202–6, 2206.e1. doi:10.1053/j.gastro.2010.04.022. PMID 20416310.
↑ Witt H, Luck W, Hennies HC, Classen M, Kage A, Lass U, Landt O, Becker M (2000). “Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis”. Nat. Genet. 25 (2): 213–6. doi:10.1038/76088. PMID 10835640.

Overview