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Pancreatitis

CFTR mutations and risk of chronic pancreatitis

Nature Reviews Gastroenterology & Hepatology volume 8, page 120 (2011)Cite this article

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David Whitcomb and colleagues have shown for the first time that the relatively common CFTR variant p.R75Q (which does not cause typical cystic fibrosis) is associated with impaired bicarbonate conductance, but not impaired chloride conductance, which increases the risk of chronic pancreatitis in carriers.

Previous studies have identified various CFTR variants that are associated with pancreatic disease (as well as other conditions) but not typical cystic fibrosis. However, little is understood about the mechanisms involved.

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ORIGINAL RESEARCH PAPER

  1. Schneider, A. et al. Combined bicarbonate conductance-impairing variants in CFTR and SPINK1 variants are associated with chronic pancreatitis in patients without cystic fibrosis. Gastroenterology 140, 162–171 (2011)

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  1. Isobel Franks
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Franks, I. CFTR mutations and risk of chronic pancreatitis. Nat Rev Gastroenterol Hepatol 8, 120 (2011). https://doi.org/10.1038/nrgastro.2011.15

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