A 15-year experience highlighting the spectrum of Alport kidney disease in the pediatric population and novel genetic variants in COL4A3–5
This study expands the genetic and clinical background of pediatric patients with AKD, presenting on a spectrum from mild hematuria to progressive chronic kidney disease. Genetic confirmation and risk stratification in the pediatric population are critical to ensure timely care and potentially slow down the progression of kidney disease.
Authors
- Špela Stangler Herodež
- Mirjam Močnik
- Nataša Marčun Varda (ORCID: https://orcid.org/0000-0003-0634-3576)
- Anamarija Meglič (ORCID: https://orcid.org/0000-0002-1273-690X)
- Anja Blejc Novak (ORCID: https://orcid.org/0000-0002-6170-1412)
- Andrej Zupan (ORCID: https://orcid.org/0000-0003-3394-7690)
- Danijela Krgović
- Nastja Andrejašič
Institutions
- University of Ljubljana (SI)
- University Clinical Centre Maribor (SI)
- Izola General Hospital (SI)
Publication Details
- Journal
- Pediatric Nephrology
- Published
- 2025-02-05
- DOI
- https://doi.org/10.1007/s00467-025-06683-8
- Primary Topic
- Cell Adhesion Molecules Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Javna Agencija za Raziskovalno Dejavnost RS