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

ABSTRACT:

Introduction

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 with severe dysmotility.

Aim

To investigate gut motility and hormones before and after a meal in FGDS patients and compare with healthy controls (HC).

Subjects and methods

Bristol stool chart and stool frequency was assessed. Before and after a meal occlusive and non-occlusive contractions were obtained using ultrasound. A wireless motility capsule (WMC) recorded gut transit time, pH, contractions and pressure. Plasma levels of selected gut hormones were measured

SUBMITTER: von Volkmann HL 

PROVIDER: S-EPMC5619782 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature