Presentation
Congenital enteropathies in young children most often manifest as chronic diarrhoea appearing in the first few months of life and characterised by defects affecting absorption, mucosal immune response and/or intestinal motility.
These are serious diseases that are treated in specialised centres for rare digestive diseases.
They most often require parenteral nutrition, immunosuppressive treatments or surgery.
Criteria before considering a discussion in MDM-FMG
1) Children under 6 years of age.
2) With or without family history or associated diseases.
3) With digestive symptoms that are often severe and suggest a hereditary disease:
- Chronic inflammatory colitis or enteropathy.
- Specific or general malabsorption.
- Chronic intestinal insufficiency.
4) Documented by a clinical course lasting more than three weeks and biological and histological tests appropriate to the situation. Digestive biopsies will usually be required.
5) After exclusion of other common conditions (allergy, coeliac disease, infections, etc.).
Genome Sequencing in diagnostic strategy
MDM cartography
MDM-FMG Congenital enteropathies in young children
Fabienne CHARBIT-HENRION