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Congenital enteropathies involving defects in enterocyte structure or differentiation
Olivier Goulet1, Bénédicte Pigneur1, Fabienne Charbit-Henrion2
1Division of Paediatric Gastroenterology Hepatology and Nutrition, University Paris-Centre, Hôpital Necker-Enfants Malades, 149, Rue de Sèvres, 75743, PARIS Cedex 15, France.
Best Practice & Research. Clinical Gastroenterology
|March 25, 2022
Summary
Congenital enteropathies (CE) are rare inherited disorders affecting early infant gut development, causing intestinal failure. Advances in genetics are improving understanding and potential treatments for these conditions.
Area of Science:
- Gastroenterology
- Genetics
- Pediatrics
Background:
- Congenital enteropathies (CE) are rare inherited diseases impacting enterocyte structure and differentiation.
- These conditions typically manifest early in life, often leading to severe intestinal failure (IF).
Purpose of the Study:
- To review early-onset congenital enteropathies, excluding immune-related diarrhea.
- To highlight the diagnostic approaches and current understanding of CE pathophysiology.
Main Methods:
- Clinical presentation analysis, including consanguinity, prenatal signs, and stool characteristics.
- Histopathological examinations and genetic mutation identification.
Main Results:
- CE diagnosis relies on clinical and histopathological findings.
- Genetic advancements have identified numerous CE-associated gene mutations, enhancing pathophysiological understanding.
Conclusions:
- Understanding CE pathophysiology is improving due to genetic discoveries.
- These insights offer potential for novel therapeutic strategies for congenital enteropathies.
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