Estimating Lifetime Risk of Autosomal Recessive Kidney Diseases Using Population-Based Genotypic Data
This study offers a comprehensive population-genetic assessment of the lifetime risk associated with ARKDs focusing on European populations, shedding light on previously underestimated prevalences and diagnostic probabilities. Consequently, these findings provide crucial insights for optimizing resource allocation towards therapy development, enhancing public health strategies, and guiding future biomedical research endeavors.
Authors
- Riccardo Berutti (ORCID: https://orcid.org/0000-0003-1862-3700)
- Matthias C. Braunisch
- Lutz Renders
- Uwe Heemann (ORCID: https://orcid.org/0000-0002-3886-2517)
- Clara Großewinkelmann
- Christoph Schmaderer (ORCID: https://orcid.org/0000-0002-5803-2190)
- Julia Hoefele (ORCID: https://orcid.org/0000-0002-7917-7129)
- Roman Günthner (ORCID: https://orcid.org/0000-0002-6208-3900)
- Jasmina Ćomić
- Matias Wagner (ORCID: https://orcid.org/0000-0002-4454-8823)
- Nora Hannane
- Martin Menke (ORCID: https://orcid.org/0009-0006-6334-2595)
- Korbinian M. Riedhammer (ORCID: https://orcid.org/0000-0002-7503-5801)
Institutions
- Boston Children's Hospital (US)
- Harvard University (US)
- TUM Klinikum (DE)
- Helmholtz Zentrum München (DE)
- Technical University of Munich (DE)
- Ludwig-Maximilians-Universität München (DE)
Publication Details
- Journal
- Kidney International Reports
- Published
- 2025-04-21
- DOI
- https://doi.org/10.1016/j.ekir.2025.04.036
- Citations
- 1
- Primary Topic
- Renal Diseases and Glomerulopathies
- Type
- article
- Field-Weighted Citation Impact
- 1.43
Funders
- Deutsche Forschungsgemeinschaft
- Technische Universität München