Congenital diarrheal disorders: improved understanding of gene defects is leading to advances in intestinal physiology and clinical management

J Pediatr Gastroenterol Nutr. 2010 Apr;50(4):360-6. doi: 10.1097/MPG.0b013e3181d135ef.


Congenital diarrheal disorders (CDD, Online Mendelian Inheritance in Man [OMIM] 251850) represent one of the most challenging clinical conditions for pediatric gastroenterologists because of the severity of the clinical picture and the broad range of disorders in its differential diagnosis. The number of conditions included within CDD has gradually increased. Recent advances made in the pathophysiology of these conditions have led to a better understanding of the more common diarrheal diseases. Based on the body of data accumulated in recent years, we suggest that CDD be classified in 4 categories depending on the alteration in absorption and transport of nutrients and electrolytes, enterocyte differentiation and polarization, enteroendocrine cell differentiation, and modulation of the intestinal immune response. Our knowledge of the genes responsible for CDD is also rapidly increasing, thanks to linkage studies based on genome-wide analysis of polymorphisms. In this context, the identification of disease genes is a step forward in the diagnostic approach to a patient in whom CDD is strongly suspected. However, it is conceivable that faster, less expensive molecular procedures will, in the near future, become available. This approach could spare the patient invasive procedures and limit complications associated with a delay in diagnosis. Furthermore, carrier and prenatal molecular diagnosis may help pediatricians better manage the condition in the early stages of life.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Diarrhea / classification
  • Diarrhea / congenital*
  • Diarrhea / diagnosis
  • Diarrhea / genetics
  • Gastrointestinal Diseases / classification
  • Gastrointestinal Diseases / congenital*
  • Gastrointestinal Diseases / diagnosis
  • Gastrointestinal Diseases / genetics
  • Humans
  • Intestines / physiopathology
  • Molecular Diagnostic Techniques
  • Mutation*
  • Polymorphism, Genetic