期刊
ENTERIC NERVOUS SYSTEM II
卷 1383, 期 -, 页码 9-17出版社
SPRINGER INTERNATIONAL PUBLISHING AG
DOI: 10.1007/978-3-031-05843-1_2
关键词
Chronic intestinal pseudo-obstruction; Enteric neurons; Enteric neuropathy; Neurogenetics; Severe gut dysfunction
Severe gut motility disorders, such as chronic intestinal pseudo-obstruction (CIPO), are characterized by ineffective propulsion of intestinal contents due to structural and functional alterations in the intrinsic and extrinsic nerve supply, interstitial cells of Cajal (ICCs), and smooth muscle cells. This chapter explores the molecular mechanisms, clinical phenotypes, and genetics of CIPO, with a focus on the role of specific genetic mutations involving RAD21, LIG3, and ACTG2. Understanding these mechanisms may lead to targeted strategies for managing this severe disease.
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.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据