TY - CHAP
T1 - Clinical and Pathological Features of Severe Gut Dysmotility
AU - Bianco, Francesca
AU - Bonora, Elena
AU - Lattanzio, Giulia
AU - Clavenzani, Paolo
AU - Guarino, Matteo
AU - Mazzoni, Maurizio
AU - Baldassarro, Vito Antonio
AU - Lorenzini, Luca
AU - Caio, Giacomo
AU - Stanghellini, Vincenzo
AU - Sternini, Catia
AU - Farrugia, Gianrico
AU - Giardino, Luciana
AU - Calzà, Laura
AU - De Giorgio, Roberto
N1 - Publisher Copyright:
© 2022, The Author(s), under exclusive license to Springer Nature Switzerland AG.
PY - 2022
Y1 - 2022
N2 - 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.
AB - 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.
KW - Chronic intestinal pseudo-obstruction
KW - Enteric neurons
KW - Enteric neuropathy
KW - Neurogenetics
KW - Severe gut dysfunction
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U2 - 10.1007/978-3-031-05843-1_2
DO - 10.1007/978-3-031-05843-1_2
M3 - Chapter
C2 - 36587142
AN - SCOPUS:85145424570
T3 - Advances in Experimental Medicine and Biology
SP - 9
EP - 17
BT - Advances in Experimental Medicine and Biology
PB - Springer
ER -