The complexity of kidney disease secondary to collagen IV variants: insights into phenotypic variability from a large Sicilian pedigree
Our findings underscore the pivotal role of genetic testing in guiding clinical management and advancing the understanding of collagen IV-related kidney diseases. Moreover, this study emphasizes the need for further research to elucidate the intricate interplay between genetic variants and histological and clinical phenotypes, thereby paving the way for personalized therapeutic approaches in collagen IV-associated nephropathies.
Authors
- Elisa Longhitano (ORCID: https://orcid.org/0000-0002-5222-4431)
- Thorsten Wiech (ORCID: https://orcid.org/0000-0003-4053-1474)
- Giuseppe Remuzzi (ORCID: https://orcid.org/0000-0002-6194-3446)
- Antonio Amoroso (ORCID: https://orcid.org/0000-0002-9437-9407)
- Vincenzo Calabrese (ORCID: https://orcid.org/0000-0001-6333-5009)
- Claudia Spinella
- Valeria Bracciamà
- Giovanni Conti (ORCID: https://orcid.org/0000-0002-0617-500X)
- Giulia Margherita Brach Del Prever (ORCID: https://orcid.org/0009-0004-8155-0449)
- Silvia Deaglio (ORCID: https://orcid.org/0000-0003-0632-5036)
- Marina Noris (ORCID: https://orcid.org/0000-0001-7651-5033)
- Domenico Santoro
Institutions
- University of Messina (IT)
- Universität Hamburg (DE)
- Mario Negri Institute for Pharmacological Research (IT)
- Azienda Ospedaliera Citta' della Salute e della Scienza di Torino (IT)
- University Medical Center Hamburg-Eppendorf (DE)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- University of Turin (IT)
Publication Details
- Journal
- Journal of Nephrology
- Published
- 2025-06-16
- DOI
- https://doi.org/10.1007/s40620-025-02321-6
- Primary Topic
- Hypertrophic osteoarthropathy and related conditions
- Type
- article
- Field-Weighted Citation Impact
- 0.00