Thématique :
- Colo-proctologie
Originalité :
Solidité :
Très solide
Doit faire évoluer notre pratique :
Nom du veilleur :
Docteur Pauline JOUET
Coup de coeur :
  2018 Jun;154(8):2045-2059.e6.  
  doi: 10.1053/j.gastro.2018.03.067.  
  Advances in Evaluation of Chronic Diarrhea in Infants.  
  Thiagarajah JR, Kamin DS, Acra S, Goldsmith JD, Roland JT, Lencer WI, Muise AM, Goldenring JR, Avitzur Y, Martín MG; PediCODE Consortium.  


Diarrhea is common in infants (children less than 2 years of age), usually acute, and, if chronic, commonly caused by allergies and occasionally by infectious agents. Congenital diarrheas and enteropathies (CODEs) are rare causes of devastating chronic diarrhea in infants. Evaluation of CODEs is a lengthy process and infrequently leads to a clear diagnosis. However, genomic analyses and the development of model systems have increased our understanding of CODE pathogenesis. With these advances, a new diagnostic approach is needed. We propose a revised approach to determine causes of diarrhea in infants, including CODEs, based on stool analysis, histologic features, responses to dietary modifications, and genetic tests. After exclusion of common causes of diarrhea in infants, the evaluation proceeds through analyses of stool characteristics (watery, fatty, or bloody) and histologic features, such as the villus to crypt ratio in intestinal biopsies. Infants with CODEs resulting from defects in digestion, absorption, transport of nutrients and electrolytes, or enteroendocrine cell development or function have normal villi to crypt ratios; defects in enterocyte structure or immune-mediated conditions result in an abnormal villus to crypt ratios and morphology. Whole-exome and genome sequencing in the early stages of evaluation can reduce the time required for a definitive diagnosis of CODEs, or lead to identification of new variants associated with these enteropathies. The functional effects of gene mutations can be analyzed in model systems such as enteroids or induced pluripotent stem cells and are facilitated by recent advances in gene editing procedures. Characterization and investigation of new CODE disorders will improve management of patients and advance our understanding of epithelial cells and other cells in the intestinal mucosa.


Question posée
Comment prendre en charge une diarrhée chez l’enfant avant 2 ans ?
Question posée
Cet article écrit par un consortium de pédiatres nord-américains décrit les modalités pratiques de prise en charge de la diarrhée chez l’enfant de moins de deux ans avec les données cliniques, les examens à prescrire, et des algorithmes pour orienter le diagnostic.

Une précieuse aide si on veut en savoir plus sur les causes de diarrhée chez l’enfant de moins de deux ans.