Congenital Diarrheal Diseases

Clin Perinatol. 2020 Jun;47(2):301-321. doi: 10.1016/j.clp.2020.02.007. Epub 2020 Mar 5.

Abstract

Early diagnosis of diarrhea is critical to prevent disease progression. Diarrhea in newborns can be congenital or acquired; acquired diarrheas are the major cause in infants. Congenital diarrheal diseases are rare and include defects in digestion, absorption, and transport of nutrients, and electrolytes; disorders of enterocyte differentiation and polarization; defects of enteroendocrine cell differentiation; dysregulation of the intestinal immune response; and dysfunction of the immune system. This review discusses the clinical approach that may help in early identification and management of different congenital diarrheal diseases.

Keywords: Congenital; Diarrhea; Enzyme deficiency; Intestinal transplant; Parenteral nutrition; Stem cell transplant.

Publication types

  • Review

MeSH terms

  • Diarrhea, Infantile / congenital*
  • Diarrhea, Infantile / physiopathology
  • Diarrhea, Infantile / therapy*
  • Humans
  • Infant
  • Infant, Newborn
  • Risk Factors