Background: The diagnosis of pediatric celiac disease (CD) currently relies mainly on serological testing, particularly anti tissue transglutaminase IgA, with duodenal biopsy required in selected cases. This approach may fail to identify early or seronegative disease and can subject children to invasive procedures. MicroRNAs (miRNAs), small non coding RNAs that regulate gene expression, are stable in biological fluids and may reflect immune and intestinal mucosal changes, making them promising non-invasive biomarkers.
Aim: To review the evidence for circulating and urinary miRNAs as early diagnostic and monitoring biomarkers for pediatric CD compared with conventional serology.
Methods: A narrative review of literature identified through PubMed, Scopus, and Google Scholar was conducted using combinations of the terms microRNA, celiac disease, pediatric, and non-invasive biomarker.
Results: Studies have identified circulating miRNA signatures preceding anti tissue transglutaminase seropositivity by more than two years, with some miRNAs normalizing following a gluten free diet. Pediatric studies have also demonstrated differential expression of specific circulating and urinary miRNAs in active CD, including among seronegative patients. A recent urinary miRNA panel combined with albuminuria achieved 90.9% sensitivity, 89.5% specificity, and an AUC of 0.938. Urinary miRNAs may also assist in monitoring adherence to a gluten free diet.
Conclusion: miRNAs demonstrate promising diagnostic and monitoring potential in pediatric CD. However, small cohorts, heterogeneous miRNA panels, and limited methodological standardization currently restrict clinical translation. Large, multicenter studies are required to establish validated miRNA based diagnostic approaches.