Clinical Edge

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Evaluation of Chronic Diarrhea in Infants

Gastroenterology; 2018 Jun; Thiagarajah, et al

A structured diagnostic approach is required to allow early and correct diagnosis in infants with congenital diarrheas and enteropathies (CODEs), including genomic analyses and the development of model systems to help with understanding of CODE pathogenesis. This according to a recent review and perspective that examined advances in the evaluation of chronic diarrhea in infants. The review includes the following recommendations and conclusions:

  • A revised approach to determine causes of diarrhea in infants should include CODEs, based on stool analysis, histologic features, responses to dietary modifications, and genetic tests.
  • 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.
  • Characterization and investigation of new CODE disorders will improve management of patients and advance understanding of epithelial cells and other cells in the intestinal mucosa.

Citation:

Thiagarajah JR, Kamin DS, Acra S, et al. Advances in evaluation of chronic diarrhea in infants. Gastroenterology. 2018;154:2045-2059. doi:10.1053/j.gastro.2018.03.067.