# Paediatric Congenital Enteropathies: Clinical and Histological Review

## TL;DR

This review discusses rare inherited gut diseases in children, focusing on how to identify and treat them using clinical, histological, and genetic methods.

## Contribution

The paper provides a comprehensive framework for diagnosing paediatric congenital enteropathies using integrated clinical, histological, and molecular approaches.

## Key findings

- PCEs require prompt diagnosis to prevent fatal outcomes, relying on histopathological and clinical features.
- Genetic testing has improved the identification of PCE-related genes, aiding diagnosis and treatment.
- Misdiagnosis is common due to limited awareness, highlighting the need for specialized training and facilities.

## Abstract

Paediatric congenital enteropathies (PCEs) are a group of rare inherited diseases with a typical early onset in life. Prompt identification and treatment are crucial to avoid potentially fatal consequences. This review aims to provide a paradigmatic framework for clinical and histological identification of PCEs, with an emphasis on congenital conditions involving epithelial shape, trafficking and polarity, enteroendocrine function, immunomodulatory diseases, and extremely early onset inflammatory bowel illness. A proper classification is founded on histopathological characteristics and clinical parameters (such as consanguinity, anomalies in amniotic fluid, prenatal expression or early neonatal onset, stool appearance, persistence of symptoms despite fasting, and extra-intestinal manifestations, etc.). The increasing accessibility and convenience of genetic tests has also accelerated the identification of genes related to specific phenotypes of PCEs, improving the diagnostic and care pathway. As a “niche” pathology, PCEs are susceptible to misdiagnosis due to a limited awareness of these entities, and their identification requires extensive training and specialized facilities. The aim of our review is to emphasize the importance of an integrated approach, combining clinical, histological, and molecular analysis, to achieve a definitive diagnosis and guide the treatment.