20.500.12556/DiRROS-28935 Transcriptomic approach in understanding Fabry nephropathy a review of the literature and proof-of-concept Background/Objectives: Fabry nephropathy (FN) is a progressive complication of Fabry disease that significantly affects patient outcomes. However, the molecular mechanisms underlying FN are not yet fully understood. Recent advances in transcriptomics have opened new perspectives for the identification of early changes in gene expression associated with the development and progression of the disease. Methods: This study includes a systematic review of transcriptomic findings in chronic kidney disease, with a particular focus on FN, and presents a proof-of-concept RNA sequencing analysis of peripheral blood samples from six Fabry patients with progressive nephropathy and six age- and sex-matched control subjects. Results: The analysis identified 41 differentially expressed genes (DEGs), all of which were upregulated in Fabry patients. Enrichment analysis revealed significant involvement in immune-related pathways, including neutrophil degranulation, interferon, and cytokine signaling. Cell type enrichment revealed that neutrophils and other immune cells are key players in this process. Conclusions: These results suggest that immune and inflammatory mechanisms play a central role in the pathogenesis of FN. The identified DEGs are involved in pro-fibrotic signaling and immune system activation and shed light on possible mechanisms underlying fibrosis, podocyte injury, and kidney damage. This study contributes to a deeper understanding of FN and may faci Fabry nephropathy RNA sequencing transcriptomic Fabry disease lysosomal storage disease Fabryjeva nefropatija sekvenciranje RNA transkriptomika Fabryjeva bolezen bolezen lizosomskega kopičenja true false true Angleški jezik Slovenski jezik Neznano 2026-04-14 11:57:12 2026-04-14 11:57:13 2026-04-15 03:57:37 0000-00-00 00:00:00 2025 0 0 Nasl. z nasl. zaslona; Opis vira z dne 28. 5. 2025; 1-13 str. iss. 5, [article no.] 601 Vol. 16 2025 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 577.2 2073-4425 10.3390/genes16050601 237502467 RAZ_Breznik_Nika_2025.pdf RAZ_Breznik_Nika_2025.pdf 1 B0D18EBC48A49B26C4A0C5181ADFF872 64fce12e11e988324c90abadef66efaf703762a78dd22ca2bc6f3a3257250785 6b86556d-37e8-11f1-9cc3-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=43157 https://www.mdpi.com/2073-4425/16/5/601 1 50f9b30b-37e8-11f1-9cc3-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=43156 Univerzitetni klinični center Ljubljana 0 0 0