Clinical and Pathological Features of Severe Gut Dysmotility.
Chronic intestinal pseudo-obstruction
Enteric neurons
Enteric neuropathy
Neurogenetics
Severe gut dysfunction
Journal
Advances in experimental medicine and biology
ISSN: 0065-2598
Titre abrégé: Adv Exp Med Biol
Pays: United States
ID NLM: 0121103
Informations de publication
Date de publication:
2022
2022
Historique:
entrez:
31
12
2022
pubmed:
1
1
2023
medline:
4
1
2023
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 36587142
doi: 10.1007/978-3-031-05843-1_2
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
9-17Subventions
Organisme : NIH HHS
ID : OT2 OD024899
Pays : United States
Organisme : NIDDK NIH HHS
ID : P30 DK041301
Pays : United States
Informations de copyright
© 2022. The Author(s), under exclusive license to Springer Nature Switzerland AG.
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