Congenital diarrhea and enteropathies (CODE)

Baby Detect > Gastroenterology > Congenital diarrhea and enteropathies (CODE)

DGAT1, NEUROG3, SLC26A3 and SLC9A3 genes

Also known as: Congenital diarrhea 7, protein-losing enteropathy type; Congenital diarrhea 4, malabsorptive; Enteric anendocrinosis; Congenital diarrhea 1 secretory chloride; Congenital diarrhea 8, secretory sodium

Includes:

OMIM#615863 https://omim.org/entry/615863

OMIM#610370 https://omim.org/entry/610370

OMIM#214700 https://omim.org/entry/214700

OMIM#616868 https://omim.org/entry/616868

1. The disease

Congenital diarrhea and enteropathies (CODEs) are monogenic disorders causing early onset of intractable diarrhea. Their diagnosis and management are challenging so that is why we decide to detect them really soon.

2. The symptoms

  • Congenital diarrhea and enteropathies (CODEs) are a group of diverse disorders characterized by chronic diarrhea, malabsorption and failure to thrive in infants. Diarrhea appears between 3 – 38 days of life. Lack of early signs or symptoms does not exclude the diagnosis.

3. Actions to take in case of early diagnosis

  • Infants with a positive genetic test (having 2 pathogenic variants or 2 copies of a single pathogenic variant in one of the 4 genes) should continue breastfeeding. Early treatment, with adequate diet and electrolytes replacement can save lives.
  • CODE is a life-threatening condition that requires lifetime management and regular follow-up with a paediatric gastroenterologist physician, dietician, and a multidisciplinary approach to care.
  • Elemental formula can be needed, when not tolerated, total parenteral nutrition is crucial.
  • Early and precise diagnosis is clue for adequate treatment.
  • Close electrolytes follow-up and fluids infusion is indicated.
  • Genetic counselling is highly recommended for family planning and evaluation of at-risk family members such as siblings.

4. For more information

Publi:

  • Mantoo MR, Malik R, Das P, Yadav R, Nakra T, Chouhan P. Congenital Diarrhea and Enteropathies in Infants: Approach to Diagnosis. Indian J Pediatr. 2021;88(11):1135-1138. PMID: 34292522.
  • Germán-Díaz M, Rodriguez-Gil Y, Cruz-Rojo J, et al. A New Case of Congenital Malabsorptive Diarrhea and Diabetes Secondary to Mutant Neurogenin-3. Pediatrics. 2017;140(2):e20162210. PMID: 28724572.