Division of Paediatric Gastroenterology Hepatology and Nutrition, University Paris-Centre, Hôpital Necker-Enfants Malades, 149, Rue de Sèvres, 75743, PARIS Cedex 15, France.
Division of Paediatric Gastroenterology Hepatology and Nutrition, University Paris-Centre, Hôpital Necker-Enfants Malades, 149, Rue de Sèvres, 75743, PARIS Cedex 15, France.
Best Pract Res Clin Gastroenterol. 2022 Feb-Mar;56-57:101784. doi: 10.1016/j.bpg.2021.101784. Epub 2022 Jan 4.
Congenital enteropathies (CE) are a group of rare inherited diseases with a typical onset early in life. They involve defects in enterocyte structure or differentiation. They can cause a severe condition of intestinal failure (IF). The diagnostic approach is based first on clinical presentation (consanguinity, prenatal expression, polyhydramnios, early neonatal onset, aspect of stools, persistence at bowel rest, associated extra-digestive manifestations….) and histo-pathological analyses. These rare intestinal diseases cause protracted diarrhea that might resolve, for a few, with a dietetic approach. However, protracted or permanent IF may require long term parenteral nutrition and, in limited cases, intestinal transplantation. With the progresses in both clinical nutrition and genetics, many of these CE are nowadays associated with recognized gene mutations. It improved our knowledge and the understanding in the patho-physiology of these diseases, thus, leading potentially to therapeutic perspectives. These review cover most of the early onset CE and excludes the immune related diarrhea.
先天性肠病 (CE) 是一组罕见的遗传性疾病，其典型发病期较早。它们涉及肠细胞结构或分化的缺陷。它们可能导致严重的肠衰竭 (IF)。诊断方法首先基于临床表现（血缘关系、产前表现、羊水过多、早发性新生儿发病、粪便特征、肠休息时持续存在、伴发的消化外表现……）和组织病理学分析。这些罕见的肠道疾病会导致迁延性腹泻，少数患者通过饮食治疗可能会缓解。然而，迁延性或永久性 IF 可能需要长期肠外营养，在有限的情况下需要肠移植。随着临床营养和遗传学的进步，现在许多 CE 都与已识别的基因突变有关。这提高了我们对这些疾病的病理生理学的认识和理解，从而带来了潜在的治疗前景。这篇综述涵盖了大多数早发性 CE，不包括免疫相关性腹泻。
