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.
摘要：
严重的肠动力障碍的特征在于肠内容物的无效推进。因此,患者通常会出现非常不舒服的症状，包括恶心和呕吐以及排便习惯的改变，直到放射学证实的亚破坏性发作。慢性肠道假性梗阻（CIPO）是由于内在（肠）神经支配和外在神经供应（因此是神经病）的形态和功能改变引起的严重肠道运动障碍的典型临床表型，Cajal间质细胞（ICCs）（间细胞病），和平滑肌细胞（肌病）。在这一章中,我们重点介绍了CIPO的一些分子机制，并回顾了不同类型CIPO的临床表型和遗传学。具体来说,我们将详细介绍一些涉及RAD21,LIG3和ACTG2的最具代表性的基因突变的作用,以便更好地了解CIPO和相关的潜在神经病性或肌病性组织病理学异常.这些知识可以揭示有针对性的策略，以更好地管理患有这种严重疾病的患者。
