World J Clin Pediatr. Sep 9, 2025; 14(3): 107165 Published online Sep 9, 2025. doi: 10.5409/wjcp.v14.i3.107165
Monogenic inflammatory bowel disease: An unfolding enigma
Upasana Ghosh, Arghya Samanta
Upasana Ghosh, Department of Pediatric Gastroenterology, Post Graduate Institute of Child Health, Noida 201303, Uttar Pradesh, India
Arghya Samanta, Department of Pediatric Gastroenterology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow 226014, Uttar Pradesh, India
Author contributions: Ghosh U did the literature review, wrote the initial manuscript draft, and contributed to the editing of the manuscript; Samanta A designed the concept and outline of the manuscript, did literature review and critical revision of the manuscript; all authors have read and approved the final manuscript.
Conflict-of-interest statement: All authors declare no conflict of interest in publishing the manuscript.
Corresponding author: Arghya Samanta, Assistant Professor, Department of Pediatric Gastroenterology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Lucknow 226014, Uttar Pradesh, India. arghyasamanta29051989@gmail.com
Received: March 17, 2025 Revised: April 10, 2025 Accepted: May 7, 2025 Published online: September 9, 2025 Processing time: 91 Days and 15.8 Hours
Abstract
Inflammatory bowel disease (IBD) is a group of chronic disorders that cause relapsing inflammation in the gastrointestinal tract (GIT). It results either from gene-environment interactions or as a monogenic disease resulting from pathogenic mutations causing impairment in the protective mechanism of the GIT. Around 10%-15% of patients with very early onset IBDs may have an underlying monogenic condition. Monogenic IBD is very different from complex forms of polygenic IBD in the underlying molecular basis of uncontrolled intestinal inflammation, age of onset, extraintestinal comorbidities as well as treatment modality. An in-depth understanding of this distinct form of IBD is essential for deciding an appropriate therapeutic approach as well as prognostication. In this review, we aim to discuss about the epidemiology, clinical presentation, diagnostic approach, therapeutic challenges and latest advances in patients with monogenic IBD.
Core Tip: Monogenic inflammatory bowel disease (IBD) is an evolving entity in pediatric IBD. It constitutes a small but important fraction of pediatric IBD; understanding its pathogenesis and clinical manifestations is vital for evaluation and accurate management. This review discusses the etiologies, clinical manifestations, and therapeutic challenges in the management of monogenic IBD.
