Gut microbiota analysis in patients with Hirschsprung’s disease: A genomic pilot study

Abstract

Background and aim: Hirschsprung's disease (HD) mortality is often caused by enterocolitis, specifically Hirschsprung's Associated Enterocolitis (HAEC). In the intestinal microbiota of patients with HD, Bacteroidetes constitute the majority of genomic sequences (46%), followed by Proteobacteria (21%). The incidence of HD is elevated in Makassar, with most cases referred to a central hospital due to high morbidity rates. This study aims to compare the microbiota profile of patients with and without HD. Methods: This study is a descriptive observational study, using samples from pediatric surgical patients diagnosed with HD or non-HD. The patients were divided into Group A (non-HD patients) and Group B (HD patients). Genomic DNA (gDNA) was extracted from samples and amplified with PCR using specific primers targeting the 16S V3-V4 region. The PCR results were used to generate genomic data, which was then sequenced using Illumina technology to find matches in a reference database. Results: This study included 10 patients, with an average age of 2 years and 2 months. The final genus-level taxonomic analysis revealed that the most prevalent microbiota genera across all samples were Enterococcus, Escherichia-Shigella, Bacteroides, Akkermansia, and Pseudomonas. In the HD group, there was considerable diversity among the genera identified, with Escherichia-Shigella, Akkermansia, and Bacteroides being the most consistently observed. In contrast, the non-HD group exhibited more uniformity, with Bacteroides and Bifidobacterium being predominant. Conclusions: While no specific microbiota pattern unique to HD was identified, microbiota composition in patients with the condition exhibited greater variability compared to individuals without HD, particularly at the taxonomic level.

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