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Paediatric Congenital Enteropathies: Clinical and Histological Review

Francesca Arienzo1, Isabella Giovannoni1, Antonella Diamanti2

  • 1Pathology Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.

Diagnostics (Basel, Switzerland)
|May 1, 2025
PubMed

Insights

Paediatric congenital enteropathies (PCEs) are rare inherited diseases requiring prompt diagnosis. An integrated approach combining clinical, histological, and molecular analysis is crucial for accurate identification and effective treatment of these conditions.

Area of Science:

  • Gastroenterology
  • Genetics
  • Pediatrics

Background:

  • Paediatric congenital enteropathies (PCEs) are rare inherited disorders presenting early in life.
  • Delayed diagnosis can lead to severe, potentially fatal outcomes.
  • Limited awareness contributes to misdiagnosis, highlighting the need for specialized knowledge.

Purpose of the Study:

  • To establish a framework for identifying PCEs.
  • To emphasize an integrated diagnostic approach.
  • To cover conditions affecting epithelial function, enteroendocrine system, and early-onset inflammatory bowel disease.

Main Methods:

  • Review of clinical and histopathological characteristics.
  • Analysis of genetic testing advancements.
  • Correlation of clinical parameters (e.g., consanguinity, onset, stool appearance, extra-intestinal signs) with diagnosis.

Main Results:

  • Histopathology and clinical parameters are key for classification.
  • Genetic testing aids in identifying genes linked to specific PCE phenotypes.
  • An integrated approach improves diagnostic accuracy and care pathways.

Conclusions:

  • Accurate diagnosis of PCEs necessitates combining clinical, histological, and molecular data.
  • Specialized training and facilities are essential for managing these rare conditions.
  • An integrated strategy is vital for definitive diagnosis and guiding treatment.

Keywords:
VEO-IBDenteropathiesimmunomodulation disordersstructural disorders

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