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Aproximación hacia la diversidad funcional a partir de multiómica comparativa entre pacientes pediátricos con Síndrome Nefrótico Idiopático a través del estado clínico y el genotipo de haptoglobina
Summary
This multi-omics study compared nasopharyngeal and gut microbiome profiles and fecal metabolomes in pediatric Idiopathic Nephrotic Syndrome patients versus healthy controls, finding that haptoglobin genotype influences metabolite patterns and that microbiome composition differs between active disease and remission states.
Idiopathic Nephrotic Syndrome (INS) is a rare renal disease whose etiology remains unclear, highlighting the need to find reliable biomarkers. In this context, haptoglobin (Hp), an expressed protein from three functional genotypes, has been proposed as a candidate. Previously, Hp 2-2 has been associated with inflammatory processes, and INS has shown high levels of Hp, presenting dysbiosis. This study aimed to determine differences between nasopharynx and gut microbiome profiles and fecal metabolome comparing healthy controls (Ctrl) and INS patients, according to their clinical status (activity vs. remission) and their Hp genotype. The composition of microbial communities was assessed through the amplification and sequencing of the V3-V4 variable regions of the 16S rRNA gene. Fecal metabolite concentrations were quantified using H-NMR. Dysbiosis was not detected in any of the microbial profiles. However, taxonomic and functional composition showed differences between Ctrl vs INS and activity vs remission. The main evidence identified was higher hypoxanthine fecal concentration in patients with genotype Hp 1-2 (p<0.05), compared to Hp 1-1. Negative correlations were observed between these concentrations and g_ Veillonella's relative abundance (r=0.65, p=0.001) and some inferred pathways related to virulence factors. Results suggest that significant differences exist in both metagenomic and metabolomic profiles comparing INS patients with Ctrl and the different clinical statuses that could be modulated by the Hp genotype. Nonetheless, it is necessary to replicate these methods in studies with a larger sample.
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