Clinical and Pathological Features of Severe Gut Dysmotility

Francesca Bianco, Elena Bonora, Giulia Lattanzio, Paolo Clavenzani, Matteo Guarino, Maurizio Mazzoni, Vito Antonio Baldassarro, Luca Lorenzini, Giacomo Caio, Vincenzo Stanghellini, Catia Sternini, Gianrico Farrugia, Luciana Giardino, Laura Calzà, Roberto De Giorgio

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Severe gut motility disorders are characterized by ineffective propulsion of intestinal contents. As a result, patients often develop extremely uncomfortable symptoms, ranging from nausea and vomiting along with alterations of bowel habits, up to radiologically confirmed subobstructive episodes. Chronic intestinal pseudo-obstruction (CIPO) is a typical clinical phenotype of severe gut dysmotility due to morphological and functional alterations of the intrinsic (enteric) innervation and extrinsic nerve supply (hence neuropathy), interstitial cells of Cajal (ICCs) (mesenchymopathy), and smooth muscle cells (myopathy). In this chapter, we highlight some molecular mechanisms of CIPO and review the clinical phenotypes and the genetics of the different types of CIPO. Specifically, we will detail the role of some of the most representative genetic mutations involving RAD21, LIG3, and ACTG2 to provide a better understanding of CIPO and related underlying neuropathic or myopathic histopathological abnormalities. This knowledge may unveil targeted strategies to better manage patients with such severe disease.

Original languageEnglish (US)
Title of host publicationAdvances in Experimental Medicine and Biology
PublisherSpringer
Pages9-17
Number of pages9
DOIs
StatePublished - 2022

Publication series

NameAdvances in Experimental Medicine and Biology
Volume1383
ISSN (Print)0065-2598
ISSN (Electronic)2214-8019

Keywords

  • Chronic intestinal pseudo-obstruction
  • Enteric neurons
  • Enteric neuropathy
  • Neurogenetics
  • Severe gut dysfunction

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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