Document Type : review article

Authors

1 Pediatric gastroenterology and Hepatology Research Center, zabol University of Medical Science, Zabol, Iran.

2 zabol university of medical sciences

3 Student research committee, Faculty of Pharmacy, Zabol University of Medical Sciences, Zabol, Iran

4 Pediatric Gastroenterology and Hepatology Research Center, Zabol University of Medical Sciences, Zabol, Iran

5 Pediatric gastroenterology and Hepatology Research Center, Zabol University of Medical Sciences, Zabol, Iran

10.22038/ijp.2024.77198.5416

Abstract

Introduction: Inflammatory bowel diseases (IBDs) are complex and multifaceted disorders characterized by recurrent and persistent intestinal inflammation. The incidence of inflammatory bowel disease (IBD) is on the rise among both children and adults worldwide. In this review, we provide an update on genomic studies of IBD, with a particular focus on very early-onset IBD (VEO-IBD), which often presents with a more severe phenotype than IBD at an older age.

Materials and methods: The methods used in this systematic review were performed according to the guidelines of the PRISMA checklist. A search was conducted by two independent researchers in international databases (PubMed, Web of Science, Scopus, and Google Scholar) to find relevant studies published in English.

Results: Patients with VEO-IBD have rare or novel genes associated with immunodeficiency that may play a role in the pathogenesis of the disease. To date, ten regions for 240 genes, which are usually monogenic, have been identified for this disease, mostly due to mutations. But the most important cause of VEO-IBD is mutation in interleukin 10. It has also been reported that VEO-IBD is associated with increased expression of S100A8 and S100A9 genes in rectal mucosa and serum.

Conclusion: Considering the multifactorial nature of IBD, all the changes that cause protein expression and function should be taken into account, so for early diagnosis and timely treatment of this disease, more extensive phenotypic sequencing is needed to discover new gene loci. And with hematopoietic stem cell transplantation, which is the most efficient method, treatment should be done for these children.

Keywords