Chronic Kidney Disease of unexplained cause (CKDx): a consensus statement by the Genes & Kidney Working Group 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.

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Publication Details

Journal
Nephrology Dialysis Transplantation
Published
2025-05-31
DOI
https://doi.org/10.1093/ndt/gfaf092
Citations
14
Primary Topic
Renal Diseases and Glomerulopathies
Type
article
Field-Weighted Citation Impact
20.03

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article

Chronic Kidney Disease of unexplained cause (CKDx): a consensus statement by the Genes & Kidney Working Group of the ERA

Roman-Ulrich Müller, Jan Halbritter, Nikola Zagorec, Tom Nijenhuis et al.
14 citations
Nephrology Dialysis Transplantation
Renal Diseases and Glomerulopathies
20.03
article

Chronic Kidney Disease of unexplained cause (CKDx): a consensus statement by the Genes & Kidney Working Group of the ERA

Roman-Ulrich Müller, Jan Halbritter, Nikola Zagorec, Tom Nijenhuis, Ewout Jasper Hoorn, Giovambattista Capasso, María Vanessa Pérez-Gómez, John Andrew Sayer, Matias Simons, Stephen B. Walsh, Lucile Figueres, Albertien M. van Eerde, Émilie Cornec-Le Gall
article en
14 citations

Abstract

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.

Nephrology Dialysis TransplantationVol. 40(12)
Radboud University Nijmegen (NL), Inserm (FR), Université de Bretagne Occidentale (FR), University of Cologne (DE), University of Campania "Luigi Vanvitelli" (IT), Heidelberg University (DE), University Hospital Dubrava (HR), Newcastle upon Tyne Hospitals NHS Foundation Trust (GB), Erasmus MC (NL), University Hospital Heidelberg (DE), Radboud University Medical Center (NL), University Medical Center Utrecht (NL), National Institute for Health and Care Research (GB), Radboud Institute for Molecular Life Sciences (NL), Institut de Transplantation Urologie en Nephrologie (FR), Biogem (IT), Institute of Human Genetics (PL), University of Campania "Luigi Vanvitelli" (IT), Centre d'Investigation Clinique de Nantes (FR), Hospital Universitario Fundación Jiménez Díaz (ES), Centre Hospitalier Régional Universitaire de Brest (FR), NIHR Newcastle Biomedical Research Centre (GB), Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (DE), University Hospital Cologne (DE), Génétique, Génomique Fonctionnelle et Biotechnologies (FR), University College London (GB), Universidad Autónoma de Madrid (ES), Charité - Universitätsmedizin Berlin (DE), Newcastle University (GB), Erasmus University Rotterdam (NL), Nantes Université (FR)
European Rare Kidney Disease Reference Network
Reduced inequalities
Openalex Percentile: Top 0%
Renal Diseases and Glomerulopathies
20.03
DOIOpen Access PDFOpenAlex
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