Hilde Løland von Volkmann1,2, Kim Nylund1,2, Rune Rose Tronstad3,4, Nils Hovdenak2, Trygve Hausken1,2, Torunn Fiskerstrand4,5, Odd Helge Gilja1,2. 1. a National Centre for Ultrasound in Gastroenterology , Haukeland University Hospital , Bergen , Norway ; 2. b Department of Clinical Medicine , University of Bergen , Bergen , Norway ; 3. c Department of Pediatrics , Haukeland University Hospital , Bergen , Norway ; 4. d Department of Clinical Science , University of Bergen , Bergen , Norway ; 5. e Center for Medical Genetics and Molecular Medicine , Haukeland University Hospital , Bergen , Norway.
Abstract
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 diarrhoea. We aimed to describe fluid content, contractility, peristaltic activity and bowel wall thickness in the intestine in fasting FGDS patients, using ultrasound, with healthy volunteers serving as controls. METHODS: Twenty-three patients with FGDS and 22 healthy controls (HC) were examined with a Logiq E9 scanner in a fasting state. Bowel wall thickness was measured and fluid-filled small bowel loops were counted using three-dimensional (3D) magnetic positioning navigation. The HC ingested 500 ml PEG solution, an electrolyte balanced, non-absorbable solution, in order to investigate the contractions of the small bowel. RESULTS: The fasting 23 FGDS patients had significantly higher number of fluid-filled small bowel segments compared to 22 fasting HC, p < 0.001. A high number of non-occlusive contractions in the ileum was observed, which was significant when compared to HC after ingesting PEG solution, p < 0.016. An increase in intestinal wall thickness or other signs of CD were not observed. CONCLUSIONS: FGDS is characterised by multiple, fluid-filled small bowel loops with incomplete contractions and fluid stagnation in fasting state. These findings may play a role in the increased risk of bowel obstruction as well as IBS-like symptoms observed in these patients.
OBJECTIVE: Familial GUCY2Cdiarrhoea 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 diarrhoea. We aimed to describe fluid content, contractility, peristaltic activity and bowel wall thickness in the intestine in fasting FGDS patients, using ultrasound, with healthy volunteers serving as controls. METHODS: Twenty-three patients with FGDS and 22 healthy controls (HC) were examined with a Logiq E9 scanner in a fasting state. Bowel wall thickness was measured and fluid-filled small bowel loops were counted using three-dimensional (3D) magnetic positioning navigation. The HC ingested 500 ml PEG solution, an electrolyte balanced, non-absorbable solution, in order to investigate the contractions of the small bowel. RESULTS: The fasting 23 FGDS patients had significantly higher number of fluid-filled small bowel segments compared to 22 fasting HC, p < 0.001. A high number of non-occlusive contractions in the ileum was observed, which was significant when compared to HC after ingesting PEG solution, p < 0.016. An increase in intestinal wall thickness or other signs of CD were not observed. CONCLUSIONS: FGDS is characterised by multiple, fluid-filled small bowel loops with incomplete contractions and fluid stagnation in fasting state. These findings may play a role in the increased risk of bowel obstruction as well as IBS-like symptoms observed in these patients.
Authors: Giovanni Maconi; Trygve Hausken; Christoph F Dietrich; Nadia Pallotta; Ioan Sporea; Dieter Nurnberg; Klaus Dirks; Laura Romanini; Carla Serra; Barbara Braden; Zeno Sparchez; Odd Helge Gilja Journal: Ultrasound Int Open Date: 2021-05-28
Authors: Hilde L von Volkmann; Ingeborg Brønstad; Odd Helge Gilja; Rune R Tronstad; Dag Andre Sangnes; Ragnar Nortvedt; Trygve Hausken; Georg Dimcevski; Torunn Fiskerstrand; Kim Nylund Journal: PLoS One Date: 2017-09-28 Impact factor: 3.240