Genetics on early onset inflammatory bowel disease: An update

Area of Science:

• Pediatric Gastroenterology
• Clinical Genetics
• Immunology

Background:

• Inflammatory bowel disease (IBD) is more prevalent in adults, but pediatric onset IBD, especially very early-onset IBD (VEO-IBD) diagnosed before age six, can have monogenic origins.
• Infantile and neonatal onset IBD represent extreme ends of the VEO-IBD spectrum, necessitating specialized diagnostic approaches.
• Early recognition of clinical manifestations is crucial for timely evaluation and diagnosis of pediatric IBD.

Purpose of the Study:

• To review genetic defects associated with the IBD phenotype in children.
• To detail the genetic basis, clinical manifestations, and diagnostic approaches for VEO-IBD.
• To summarize current and potential treatment options for pediatric IBD, including targeted therapies and stem cell transplantation.

Main Methods:

• Literature review focusing on genetic defects in pediatric IBD.
• Analysis of genetic locations, functions, and associated clinical phenotypes of VEO-IBD genes.
• Synthesis of diagnostic clues and strategies for identifying monogenic IBD causes.

Main Results:

• Identified specific genetic defects linked to VEO-IBD, including their chromosomal locations and functional impacts.
• Described key clinical features that suggest a monogenic etiology in children with IBD.
• Outlined diagnostic pathways utilizing next-generation sequencing for genetic confirmation.

Conclusions:

• Genetic factors play a significant role in pediatric IBD, particularly in VEO-IBD cases.
• Early genetic diagnosis is essential for guiding appropriate and potentially curative treatment strategies.
• Advances in genetic analysis and targeted therapies offer improved management for children with IBD.