{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T02:52:31Z","timestamp":1786935151448,"version":"build-2736575974"},"reference-count":45,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2025,5,19]],"date-time":"2025-05-19T00:00:00Z","timestamp":1747612800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004329","name":"Slovenian Research and Innovation Agency","doi-asserted-by":"publisher","award":["P1-0170"],"award-info":[{"award-number":["P1-0170"]}],"id":[{"id":"10.13039\/501100004329","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004329","name":"Slovenian Research and Innovation Agency","doi-asserted-by":"publisher","award":["J3-50113"],"award-info":[{"award-number":["J3-50113"]}],"id":[{"id":"10.13039\/501100004329","id-type":"DOI","asserted-by":"publisher"}]},{"name":"ELIXIR-SI","award":["P1-0170"],"award-info":[{"award-number":["P1-0170"]}]},{"name":"ELIXIR-SI","award":["J3-50113"],"award-info":[{"award-number":["J3-50113"]}]},{"name":"Takeda Pharmaceuticals","award":["P1-0170"],"award-info":[{"award-number":["P1-0170"]}]},{"name":"Takeda Pharmaceuticals","award":["J3-50113"],"award-info":[{"award-number":["J3-50113"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>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 facilitate in the identification of early biomarkers for diagnosis and disease monitoring.<\/jats:p>","DOI":"10.3390\/genes16050601","type":"journal-article","created":{"date-parts":[[2025,5,20]],"date-time":"2025-05-20T04:48:18Z","timestamp":1747716498000},"page":"601","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Transcriptomic Approach in Understanding Fabry Nephropathy: A Review of the Literature and Proof-of-Concept"],"prefix":"10.3390","volume":"16","author":[{"given":"Nika","family":"Breznik","sequence":"first","affiliation":[{"name":"Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8808-1084","authenticated-orcid":false,"given":"Tina","family":"Levstek","sequence":"additional","affiliation":[{"name":"Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia"},{"name":"Clinical Institute for Special Laboratory Diagnostics, University Children\u2019s Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5615-9606","authenticated-orcid":false,"given":"Bojan","family":"Vujkovac","sequence":"additional","affiliation":[{"name":"Centre for Fabry Disease, General Hospital Slovenj Gradec, 2380 Slovenj Gradec, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreja","family":"Cokan Vujkovac","sequence":"additional","affiliation":[{"name":"Centre for Fabry Disease, General Hospital Slovenj Gradec, 2380 Slovenj Gradec, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0154-3547","authenticated-orcid":false,"given":"Katarina","family":"Trebu\u0161ak Podkraj\u0161ek","sequence":"additional","affiliation":[{"name":"Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia"},{"name":"Clinical Institute for Special Laboratory Diagnostics, University Children\u2019s Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,5,19]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/1750-1172-5-30","article-title":"Fabry Disease","volume":"5","author":"Germain","year":"2010","journal-title":"Orphanet J. 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