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Lookup NU author(s): Professor John SayerORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© The Author(s) 2025. Published by Oxford University Press on behalf of the ERA.Chronic kidney disease of unexplained cause (CKDx) is a diagnosis of exclusion. With an estimated global prevalence of at least 16–20% among CKD patients, CKDx poses a significant challenge to the field. To date, there is no established consensus on the definition of CKDx. Additionally, guidance on the diagnosis and reporting of CKDx remains lacking. CKDx is characterized by the inability to identify a specific etiology after comprehensive diagnostic evaluation, including laboratory tests, imaging, and histological or genetic analyses. This condition encompasses diverse clinical scenarios, which vary depending on the availability of diagnostic resources across healthcare systems. Notably, as the diagnostic yield of genetic testing in CKDx ranges from 11 to over 30% in the literature, it has become an integral part of the diagnostic armamentarium for patients with CKDx. This consensus statement of the working group ‘Genes&Kidney’ of the European Renal Association proposes a definition of CKDx, along with recommendations for the diagnostic approach and diagnostic reporting standards, including guidance on genetic workup as a key tool in a large proportion of such cases. Improved reporting standards, including the systematic documentation of diagnostic tests performed, are essential to avoid the negative therapeutic consequences of misdiagnoses, address the diagnostic gap in CKDx, and inform future research. By fostering a cause-directed approach, this work aims to enhance patient care and lay the foundation for further advancements in nephrology.
Author(s): Halbritter J, Figueres L, Van Eerde AM, Capasso G, Hoorn EJ, Nijenhuis T, Perez-Gomez MV, Sayer JA, Simons M, Walsh S, Zagorec N, Muller R-U, Cornec-Le Gall E
Publication type: Article
Publication status: Published
Journal: Nephrology Dialysis Transplantation
Year: 2025
Volume: 40
Issue: 12
Pages: 2390-2400
Print publication date: 01/12/2025
Online publication date: 03/06/2025
Acceptance date: 20/05/2025
Date deposited: 09/12/2025
ISSN (print): 0931-0509
ISSN (electronic): 1460-2385
Publisher: Oxford University Press
URL: https://doi.org/10.1093/ndt/gfaf092
DOI: 10.1093/ndt/gfaf092
Data Access Statement: No new data were generated or analysed in support of this research.
PubMed id: 40459916
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