Congenital enteropathies involving defects in enterocyte structure or differentiation

Abstract

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.

Keywords: ARX; Congenital enteropathy; EPCAM; Enteroendocrine cell function; MYO5B; Microvillous inclusion disease; NEUROG3; PCSK1; PERCC1; RFX6; SKIV2L; SPINT2; STX3; TTC37; Tricho-hepato-enteric syndrome; UNC45A; congenital tufting enteropathy.