Congenital diarrhea and enteropathy (CODE) refers to a group of rare, genetic disorders that manifest with chronic diarrhea starting in infancy.
CODE disorders primarily affect the function of intestinal epithelial cells.
Code leads to significant morbidity and mortality due to severe dehydration, malnutrition, and poor growth.
The genetic architecture of CODEs has diverse, pathogenic variants identified in multiple genes, including MYO5B (microvillus inclusion disease), EPCAM (tufting enteropathy), NEUROG3 (enteric anendocrinosis), DGAT1 (protein-losing enteropathy), and SLC9A3 (congenital sodium diarrhea).
These genetic defects alter functional groups: epithelial trafficking and polarity, immune-cell regulation, nutrient and electrolyte transport, enteroendocrine-cell development, and nutrient metabolism.
Clinical management of CODEs involves supportive care, including specialized nutritional management.
Nutritional strategies: specialized formulas, restrictive diets, or parenteral nutrition, depending on the specific disorder and its impact on nutrient absorption and tolerance.
Nutrient elimination or supplementation can significantly improve symptoms in carbohydrate malabsorption or defects in fat absorption.
Advances in genetic testing with whole-exome and genome sequencing, allows for earlier and more accurate identification of these disorders.