Clinical and Pathological Features of Severe Gut Dysmotility.
Adv Exp Med Biol
; 1383: 9-17, 2022.
Article
em En
| MEDLINE
| ID: mdl-36587142
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.
Palavras-chave
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Pseudo-Obstrução Intestinal
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
En
Revista:
Adv Exp Med Biol
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Itália