Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management-A KDIGO consensus report
Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O (2015)
Publication Type: Journal article
Publication year: 2015
Journal
Book Volume: 88
Pages Range: 676-83
Journal Issue: 4
DOI: 10.1038/ki.2015.28
Abstract
Rare autosomal dominant tubulointerstitial kidney disease is caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1? (HNF1B), renin (REN), and mucin-1 (MUC1). Multiple names have been proposed for these disorders, including 'Medullary Cystic Kidney Disease (MCKD) type 2', 'Familial Juvenile Hyperuricemic Nephropathy (FJHN)', or 'Uromodulin-Associated Kidney Disease (UAKD)' for UMOD-related diseases and 'MCKD type 1' for the disease caused by MUC1 mutations. The multiplicity of these terms, and the fact that cysts are not pathognomonic, creates confusion. Kidney Disease: Improving Global Outcomes (KDIGO) proposes adoption of a new terminology for this group of diseases using the term 'Autosomal Dominant Tubulointerstitial Kidney Disease' (ADTKD) appended by a gene-based subclassification, and suggests diagnostic criteria. Implementation of these recommendations is anticipated to facilitate recognition and characterization of these monogenic diseases. A better understanding of these rare disorders may be relevant for the tubulointerstitial fibrosis component in many forms of chronic kidney disease.
Authors with CRIS profile
Kai-Uwe Eckardt
Department of Medicine 4 – Nephrology and Hypertension
Michael Wiesener
Department of Medicine 4 – Nephrology and Hypertension
Involved external institutions
Beth Israel Deaconess Medical Center (BIDMC)
United States (USA) (US)
National Institute for Health and Medical Research / Institut national de la santé et de la recherche médicale (INSERM)
France (FR)
Wake Forest University
United States (USA) (US)
Centre Hospitalier Universitaire (CHU) de Toulouse
France (FR)
Centrum Medische Genetica UZ Brussel
Netherlands (NL)
University of Cyprus (UCY) / Πανεπιστήμιο Κύπρου
Cyprus (CY)
Uromodulin Kidney Disease (UKD) Foundation
United States (USA) (US)
Univerzita Karlova v Praze / Charles University in Prague
Czech Republic (CZ)
Istituto di ricovero e cura a carattere scientifico (IRCCS)
Italy (IT)
University of Texas Southwestern Medical Center (UT Southwestern)
United States (USA) (US)
University of Zurich / Universität Zürich (UZH)
Switzerland (CH)
United States (USA) (US)
National Institute for Health and Medical Research / Institut national de la santé et de la recherche médicale (INSERM)
France (FR)
Wake Forest University
United States (USA) (US)
Centre Hospitalier Universitaire (CHU) de Toulouse
France (FR)
Centrum Medische Genetica UZ Brussel
Netherlands (NL)
University of Cyprus (UCY) / Πανεπιστήμιο Κύπρου
Cyprus (CY)
Uromodulin Kidney Disease (UKD) Foundation
United States (USA) (US)
Univerzita Karlova v Praze / Charles University in Prague
Czech Republic (CZ)
Istituto di ricovero e cura a carattere scientifico (IRCCS)
Italy (IT)
University of Texas Southwestern Medical Center (UT Southwestern)
United States (USA) (US)
University of Zurich / Universität Zürich (UZH)
Switzerland (CH)
How to cite
APA:
Eckardt, K.-U., Alper, S.L., Antignac, C., Bleyer, A.J., Chauveau, D., Dahan, K.,... Devuyst, O. (2015). Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management-A KDIGO consensus report. Kidney International, 88(4), 676-83. https://doi.org/10.1038/ki.2015.28
MLA:
Eckardt, Kai-Uwe, et al. "Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management-A KDIGO consensus report." Kidney International 88.4 (2015): 676-83.
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