Genetic testing in a national cohort of adults with chronic kidney disease of unknown origin
MPS-based multigene panel testing yielded a genetic diagnosis in 17% of patients with unexplained CKD. Our findings support the relevance of MPS in the diagnostic workup of adults with unexplained CKD with onset at <50 years of age. Additionally, our results underline the need to improve genetic education among nephrologists to better the implementation of MPS-based diagnostic testing in clinical practice.
Authors
- Joan Doornebal (ORCID: https://orcid.org/0000-0002-4671-8056)
- Laura R. Claus (ORCID: https://orcid.org/0000-0003-2364-4362)
- Andrea B. Kramer
- Constantijn Konings
- Femke Waanders
- Ewout Jasper Hoorn (ORCID: https://orcid.org/0000-0002-8738-3571)
- T.C. Rothuizen
- Liffert Vogt (ORCID: https://orcid.org/0000-0002-4585-7505)
- Joris I. Rotmans (ORCID: https://orcid.org/0000-0001-9682-6234)
- Mark Eijgelsheim
- Albertien M. van Eerde (ORCID: https://orcid.org/0000-0001-5953-5956)
- Aaltje Y Adema
- Martin H. de Borst (ORCID: https://orcid.org/0000-0002-4127-8733)
- H. Siebe Spijker (ORCID: https://orcid.org/0000-0001-6144-3858)
- Gijs Fortrie (ORCID: https://orcid.org/0000-0002-9077-8654)
- Amber de Haan (ORCID: https://orcid.org/0000-0003-4228-6927)
- Bert van der Zwaag
- Roos F. Marsman
- Nine Knoers
Institutions
- University Medical Center Groningen (NL)
- Radboud University Nijmegen (NL)
- University of Groningen (NL)
- Utrecht University (NL)
- Leiden University Medical Center (NL)
- Catharina Ziekenhuis (NL)
- Erasmus MC (NL)
- Medisch Centrum Leeuwarden (NL)
- University Medical Center Utrecht (NL)
- Amsterdam Neuroscience (NL)
- Martini Ziekenhuis (NL)
- Groene Hart Ziekenhuis (NL)
- Isala (NL)
- Amsterdam University Medical Centers (NL)
- Rijnstate Hospital (NL)
- University of Amsterdam (NL)
- Erasmus University Rotterdam (NL)
Publication Details
- Journal
- Nephrology Dialysis Transplantation
- Published
- 2024-11-19
- DOI
- https://doi.org/10.1093/ndt/gfae270
- Citations
- 7
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 3.85
Funders
- Sanofi
- Nierstichting
- Ministerie van Economische Zaken en Klimaat
- European Rare Kidney Disease Reference Network
- Sanofi Genzyme