Alterations in intestinal microbiota composition in children with hirschsprung disease: A comparative study with healthy controls

Introduction: Hirschsprung disease (HSCR) is a congenital condition characterized by the absence of ganglion cells in the distal colon, resulting in bowel obstruction and motility disorders. Recent studies have highlighted the role of intestinal microbiota in intestinal health and disease, yet its specific alterations in HSCR patients remain unclear. This study aimed to investigate the intestinal microbiota profile of children with HSCR and compare it with healthy controls to identify potential microbial signatures associated with the disease. Materials and Methods: This comparative cross-sectional study analyzed fecal samples from 7 preoperative HSCR patients and 3 healthy controls using 16S rRNA gene sequencing. Inclusion criteria required no antibiotic use within the previous two weeks. Clinical data, including nutritional status, medication history, bowel management methods, and history of HAEC, were recorded. Microbiota composition was compared at the phylum and family levels. Results: HSCR patients exhibited significantly higher relative abundance of Enterobacteriaceae (mean 0.2582) compared to healthy controls (mean 0.0236), representing an approximately eleven-fold increase. HSCR patients also showed decreased proportions of Firmicutes, Actinobacteria, Bacilli, and Clostridia, while Bacteroidales were increased. Classification of taxa revealed a reduction in beneficial bacteria (e.g., Lactobacillus, Bifidobacterium) and enrichment of potentially pathogenic taxa (e.g., Escherichia-Shigella). Conclusion: HSCR patients demonstrate a distinct dysbiotic microbiota profile, with reduced beneficial taxa and elevated Enterobacteriaceae levels. These findings highlight potential microbiota-targeted strategies for clinical management of HSCR. © 2025, Malaysian Medical Association. All rights reserved.