@article{33a82fdfde09489e81150253e93466ae,
title = "Autosomal dominant tubulointerstitial kidney disease: Diagnosis, classification, and management - A KDIGO consensus report",
abstract = "Rare autosomal dominant tubulointerstitial kidney disease is caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (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.",
keywords = "genetics, hepatocyte nuclear factor-1β, kidney disease, mucin-1, renin, uromodulin",
author = "Eckardt, {Kai Uwe} and Alper, {Seth L.} and Corinne Antignac and Bleyer, {Anthony J.} and Dominique Chauveau and Karin Dahan and Constantinos Deltas and Andrew Hosking and Stanislav Kmoch and Luca Rampoldi and Michael Wiesener and Wolf, {Matthias T.} and Olivier Devuyst",
note = "Funding Information: CD is supported by a grant cofunded by the European Regional Development Fund and the Republic of Cyprus through the Research Promotion Foundation (Strategic Infrastructure Project NEW INFRASTRUCTURE/STRATEGIC/ 0308/24). SK is supported by the Charles University institutional programs PRVOUK-P24/LF1/3, UNCE 204011, and SVV2013/266504, and by BIOCEV—Biotechnology and Biomedicine Centre of the Academy of Sciences and Charles University (CZ.1.05/1.1.00/02.0109) from the European Regional Development Fund. Specific support was provided by grant LH12015 from the Ministry of Education of the Czech Republic. LR is supported by Telethon-Italy (TCR08006) and by the Italian Ministry of Health (grant RF-2010-2319394). MW is supported by the Else Kr{\"o}ner-Fresenius-Stiftung (project no. 2010_A137) and the ELAN-Fonds of the Friedrich-Alexander-University Erlangen-N{\"u}rnberg (project no. 09.10.21.1). MTW is supported by NIH (K08DK095994-03), Carl W. Gottschalk Research Scholar Grant (American Society of Nephrology). OD is supported by the European Community{\textquoteright}s 7th Framework Program (FP7/2007-2013) under grant agreement n° 246539 and 608847 (IKPP Marie Curie) and grant n° 305608 (EURenOmics); the FNRS and FRSM (Belgium); the NCCR Kidney.CH program (Swiss National Science Foundation); the Gebert R{\"u}f Stiftung (Project GRS-038/12); and the Swiss National Science Foundation 310030-146490. The expert support of Michael Cheung (KDIGO) in preparing the conference and assisting this summary report is highly appreciated.",
year = "2015",
month = oct,
day = "3",
doi = "10.1038/ki.2015.28",
language = "English (US)",
volume = "88",
pages = "676--683",
journal = "Kidney international",
issn = "0085-2538",
publisher = "Nature Publishing Group",
number = "4",
}