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The most common genetic cause is a homozygous deletion of NPHP1, which encodes nephrocystin-1, a protein essential for primary cilium structure and cell junctions. Using personalized medicine and deep phenotyping, we investigated a family with three siblings carrying a homozygous NPHP1 deletion. We compared kidney biopsy tissue and human urine-derived renal epithelial cells (hURECs) from these individuals. Bulk RNA-seq on patient hURECs revealed altered expression in EGFR signalling, extracellular components and adherens junctions, which is consistent with the known roles for nephrocystin-1. Treatment with alprostadil, a proposed NPHP therapy, increased ciliation but worsened ciliary elongation. By contrast, the EGFR kinase inhibitor AG556 rescued of ciliary length and morphology. Transcriptional profiling post-treatment showed AG556 reversed the disease signature more effectively that alprostadil. These findings suggest that EGFR inhibition might offer a more promising therapeutic strategy for NPHP1-associated renal ciliopathy, warranting further testing in in vivo models before clinical application.<\/jats:p>","DOI":"10.1242\/jcs.264141","type":"journal-article","created":{"date-parts":[[2025,8,8]],"date-time":"2025-08-08T09:11:43Z","timestamp":1754644303000},"source":"Crossref","is-referenced-by-count":3,"title":["Urinary renal epithelial cells can be used for <i>NPHP1<\/i> phenotyping and a personalized therapeutic strategy"],"prefix":"10.1242","volume":"138","author":[{"given":"Praveen Dhondurao","family":"Sudhindar","sequence":"first","affiliation":[{"name":"Translational and Clinical Research Institute 1 , Faculty of Medical Sciences , , Central Parkway, Newcastle upon Tyne, NE1 3BZ ,","place":["UK"]},{"name":"Newcastle University 1 , Faculty of Medical Sciences , , Central Parkway, Newcastle upon Tyne, NE1 3BZ 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Newcastle upon Tyne, NE7 7DN ,","place":["UK"]},{"name":"NIHR Newcastle Biomedical Research Centre 6 , Newcastle upon Tyne, NE4 5PL ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7293-2187","authenticated-orcid":false,"given":"Juliana E.","family":"Arcila-Galvis","sequence":"additional","affiliation":[{"name":"Biosciences Institute 3 , Faculty of Medical Sciences , , Central Parkway, Newcastle upon Tyne, NE1 3BZ ,","place":["UK"]},{"name":"Newcastle University 3 , Faculty of Medical Sciences , , Central Parkway, Newcastle upon Tyne, NE1 3BZ ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2025,9,8]]},"reference":[{"key":"2025090809121254000_JCS264141C1","doi-asserted-by":"publisher","first-page":"1370723","DOI":"10.3389\/fcell.2024.1370723","article-title":"Patient-derived and gene-edited pluripotent stem cells lacking NPHP1 recapitulate juvenile 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