Prolonged intestinal transit and diarrhea in patients with an activating GUCY2C mutation

• Published in: PloS one Vol. 12; no. 9; p. e0185496
• Main Authors: von Volkmann, Hilde L., Brønstad, Ingeborg, Gilja, Odd Helge, R. Tronstad, Rune, Sangnes, Dag Andre, Nortvedt, Ragnar, Hausken, Trygve, Dimcevski, Georg, Fiskerstrand, Torunn, Nylund, Kim
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 28.09.2017; Public Library of Science (PLoS)
• Subjects: Adult; Aged; Biology and Life Sciences; Body Fluids; Capsule Endoscopy; Care and treatment; Causes of; Clinical medicine; Colon; Constipation; Control charts; Diarrhea; Diarrhea - blood; Diarrhea - diagnostic imaging; Diarrhea - genetics; Diarrhea - physiopathology; Digestive system; Digestive tract; Duodenum; Female; Gastric motility; Gastroenterology; Gastrointestinal tract; Gastrointestinal Transit - physiology; Gene mutation; Genetic aspects; Guanylate cyclase; Health aspects; Hormones; Hormones - blood; Hospitals; Humans; Hydration; Hydrogen-Ion Concentration; Intestines - pathology; Intestines - physiopathology; Irritable bowel syndrome; Male; Medicine; Medicine and Health Sciences; Middle Aged; Motility; Muscle Contraction; Mutation; Mutation - genetics; Observer Variation; Pain; Patients; pH effects; Pharmacology; Physiological aspects; Plasma levels; Pressure; Receptors, Enterotoxin; Receptors, Guanylate Cyclase-Coupled - genetics; Receptors, Peptide - genetics; Serotonin; Small intestine; Time Factors; Transit time; Ultrasonic imaging; Ultrasound; Young Adult; Norway

Increased intestinal hydration by activation of the epithelial enzyme linked receptor guanylate cyclase C (GC-C) is a pharmacological principle for treating constipation. Activating mutations in the GUCY2C gene encoding GC-C cause Familial GUCY2C diarrhea syndrome (FGDS) which has been diagnosed wit...