Article
An activating gucy2c mutation causes impaired contractility and fluid stagnation in the small bowel.
Scandinavian journal of gastroenterology - 1 Nov 2016
von Volkmann Hilde Løland, Nylund Kim, Tronstad Rune Rose, Hovdenak Nils, Hausken Trygve, Fiskerstrand Torunn, Gilja Odd Helge
Abstract excerpt
OBJECTIVE: Familial GUCY2C diarrhoea syndrome (FGDS) is caused by an activating mutation in the GUCY2C gene encoding the receptor guanylate cyclase C in enterocytes. Activation leads to increased secretion of fluid into the intestinal lumen. Twenty percent of the patients have increased risk of Crohn's disease and intestinal obstruction (CD, 20%) and the condition resembles irritable bowel syndrome with...
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