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Renal involvement is a major complication, yet diagnosis often requires an invasive kidney biopsy, and follow-up relies on indirect biomarkers or imaging, which lack specificity. Here, we present human urine-derived renal epithelial cells (hURECs) as a minimally invasive alternative for phenotyping renal Fabry disease and monitoring treatment response. Using hURECs from a newly diagnosed male Fabry disease patient, transmission electron microscopy (TEM) revealed lysosomal inclusions consistent with native kidney biopsy findings. Bulk RNA sequencing (RNA-seq) identified a transcriptomic disease signature, including dysregulated pathways involved in lipid metabolism homeostasis, ion transport, endoplasmic reticulum stress response, and collagen processing. Following systemic treatment of the patient with chaperone therapy, partial amelioration of the hUREC transcriptomic signature was observed during the first few months. However, by nine months, the signature began reverting toward baseline, correlating with continued kidney function decline. This prompted a transition to enzyme replacement therapy, with early evaluations showing transcriptomic stabilization. Our findings demonstrate that hURECs replicate key structural and molecular markers of renal Fabry disease and offer a non-invasive platform for longitudinal assessment of treatment response. TEM of hURECs provides a diagnostic alternative to biopsy, while RNA-seq-based transcriptomic profiling offers a sensitive and dynamic view of molecular changes, including key dysregulated pathways. This dual utility positions hURECs as a novel tool for improving the diagnosis, monitoring, and personalized management of kidney involvement in Fabry disease.<\/jats:p>","DOI":"10.1042\/cs20255570","type":"journal-article","created":{"date-parts":[[2025,7,17]],"date-time":"2025-07-17T11:00:08Z","timestamp":1752750008000},"page":"791-808","update-policy":"https:\/\/doi.org\/10.1042\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Urine-derived renal epithelial cells for deep phenotyping and transcriptomic response to therapy in Fabry disease"],"prefix":"10.1042","volume":"139","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7733-8507","authenticated-orcid":false,"given":"Praveen Dhondurao","family":"Sudhindar","sequence":"first","affiliation":[{"name":"1Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-2373-8355","authenticated-orcid":false,"given":"Sarah E.","family":"Orr","sequence":"additional","affiliation":[{"name":"1Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7687-5781","authenticated-orcid":false,"given":"Eve","family":"Miller-Hodges","sequence":"additional","affiliation":[{"name":"2Centre for Cardiovascular Science, Queen\u2019s Medical Research Institute, University of Edinburgh, Edinburgh, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1840-915X","authenticated-orcid":false,"given":"Elisa","family":"Molinari","sequence":"additional","affiliation":[{"name":"1Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katrina","family":"Wood","sequence":"additional","affiliation":[{"name":"3Department of Cellular Pathology, Royal Victoria Infirmary Newcastle upon Tyne, Newcastle upon Tyne, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3799-4884","authenticated-orcid":false,"given":"Shalabh","family":"Srivastava","sequence":"additional","affiliation":[{"name":"1Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne, United Kingdom"},{"name":"4Sunderland Royal Infirmary, Sunderland, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Colin G.","family":"Miles","sequence":"additional","affiliation":[{"name":"1Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-0442-9466","authenticated-orcid":false,"given":"Holly R.","family":"Mabillard","sequence":"additional","affiliation":[{"name":"1Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6005-7111","authenticated-orcid":false,"given":"Zachary T.","family":"Sentell","sequence":"additional","affiliation":[{"name":"5Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Trevisan-Herraz","sequence":"additional","affiliation":[{"name":"5Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7293-2187","authenticated-orcid":false,"given":"Juliana E.","family":"Arcila-Galvis","sequence":"additional","affiliation":[{"name":"5Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1881-3782","authenticated-orcid":false,"given":"John A.","family":"Sayer","sequence":"additional","affiliation":[{"name":"5Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom"},{"name":"6Renal Services, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom"},{"name":"7NIHR Newcastle Biomedical Research Centre, Newcastle upon Tyne, United 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