Familial Kidney Disease Phenocopying Hypertensive Nephropathy
We describe a kidney disease with mild hypertension that is more characteristic of a tubulointerstitial disease and phenocopies hypertensive nephropathy. While the variant COL4A4:p.G545A is not responsible for a Mendelian CKD phenotype, it appears to increases the susceptibility, acting as a hypomorphic variant contributing to Alport spectrum nephropathy. Early detection and treatment with ACE inhibitors should prolong kidney survival to an age where hemodialysis is avoided.
Authors
- Düriye Deren Oygar (ORCID: https://orcid.org/0000-0002-4017-0640)
- Constantinos Deltas (ORCID: https://orcid.org/0000-0001-5549-9169)
- F. Özdemir (ORCID: https://orcid.org/0000-0001-5463-5173)
- Gregory Papagregoriou (ORCID: https://orcid.org/0000-0002-2440-9789)
- Meral Yükseliş
- Simge Bardak (ORCID: https://orcid.org/0000-0002-6851-4871)
- Salahi Ataç
- Daniel P. Gale (ORCID: https://orcid.org/0000-0002-9170-1579)
- Cemal Gürkan (ORCID: https://orcid.org/0000-0001-7379-4559)
- Ahmet Behlül
- Apostolos Malatras (ORCID: https://orcid.org/0000-0003-1380-5521)
- Guy H. Neild
Institutions
- Nicosia General Hospital (CY)
- University of Cyprus (CY)
- Eastern Mediterranean University (CY)
- UCL Biomedical Research Centre (GB)
- University College London (GB)
- Cypress College (US)
Publication Details
- Journal
- Glomerular Diseases
- Published
- 2025-04-26
- DOI
- https://doi.org/10.1159/000546094
- Citations
- 1
- Primary Topic
- Renal Diseases and Glomerulopathies
- Type
- article
- Field-Weighted Citation Impact
- 1.43
Funders
- University of Cyprus
- Doğu Akdeniz Üniversitesi
- Research and Innovation Foundation