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Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report

Eckardt, Kai-Uwe
Author Eckardt, Kai-Uwe Department of Nephrology and Hypertension, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany
Alper, Seth L
Author Alper, Seth L Divisions of Nephrology and Molecular and Vascular Medicine, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts, USA
Antignac, Corinne
Author Antignac, Corinne INSERM U1163, Laboratory of Hereditary Kidney Diseases, Paris, France Paris Descartes University, Imagine Institute, Paris, France
Bleyer, Anthony J
Author Bleyer, Anthony J Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA
Chauveau, Dominique
Author Chauveau, Dominique Département de Néphrologie et Transplantation d'organes, CHU Rangueil, Toulouse, France
Dahan, Karin
Author Dahan, Karin Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium
Deltas, Constantinos
Author Deltas, Constantinos Department of Biological Sciences, Molecular Medicine Research Center and Laboratory of Molecular and Medical Genetics, University of Cyprus, Nicosia, Cyprus
Hosking, Andrew
Author Hosking, Andrew UKD Foundation, New York, New York, USA
Kmoch, Stanislav
Author Kmoch, Stanislav Institute for Inherited Metabolic Disorders, Charles University in Prague, Prague, Czech Republic
Rampoldi, Luca
Author Rampoldi, Luca Molecular Genetics of Renal Disorders Unit, Division of Genetics and Cell Biology, Dulbecco Telethon Institute c/o IRCCS San Raffaele Scientific Institute, Milan, Italy
Wiesener, Michael
Author Wiesener, Michael Department of Nephrology and Hypertension, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany
Wolf, Matthias T
Author Wolf, Matthias T Division of Pediatric Nephrology, University of Texas Southwestern Medical Center, Dallas, Texas, USA
Devuyst, Olivier
Author Devuyst, Olivier Institute of Physiology, University of Zurich, Zurich, Switzerland
Kidney Disease: Improving Global Outcomes
Author Kidney Disease: Improving Global Outcomes

Kidney international. 2015 Oct ; 88 (4) : 676-83. [epub] 20150304

Kidney Int
ISSN 1523-1755 | 0085-2538
Source

Language English Country United States Media print-electronic

Document type Consensus Development Conference, Journal Article, Practice Guideline, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't

Persistent link https://www.medvik.cz/link/pmid25738250

Grant support
K08 DK095994 NIDDK NIH HHS - United States
TCR08006 Telethon - Italy
K08DK095994-03 NIDDK NIH HHS - United States

PubMed 25738250
DOI 10.1038/ki.2015.28
PII: S2157-1716(15)32277-2
Knihovny.cz E-resources

MeSH
Gout * classification diagnosis genetics therapy MeSH
Phenotype MeSH
Genetic Predisposition to Disease MeSH
Hyperuricemia * classification diagnosis genetics therapy MeSH
Consensus MeSH
Humans MeSH
Mutation MeSH
DNA Mutational Analysis MeSH
Nephrology standards MeSH
Kidney Diseases * classification diagnosis genetics therapy MeSH
Polycystic Kidney, Autosomal Dominant * classification diagnosis genetics therapy MeSH
Predictive Value of Tests MeSH
Terminology as Topic MeSH
Uromodulin classification deficiency genetics MeSH
Treatment Outcome MeSH
Check Tag
Humans MeSH
Publication type
Journal Article MeSH
Consensus Development Conference MeSH
Research Support, Non-U.S. Gov't MeSH
Research Support, N.I.H., Extramural MeSH
Practice Guideline MeSH
Names of Substances
Uromodulin MeSH

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.

Centre de Génétique Humaine Institut de Pathologie et de Génétique Gosselies Belgium

Département de Néphrologie et Transplantation d'organes CHU Rangueil Toulouse France

Department of Biological Sciences Molecular Medicine Research Center and Laboratory of Molecular and Medical Genetics University of Cyprus Nicosia Cyprus

Department of Nephrology and Hypertension Friedrich Alexander Universität Erlangen Nürnberg Erlangen Germany

Division of Pediatric Nephrology University of Texas Southwestern Medical Center Dallas Texas USA

Divisions of Nephrology and Molecular and Vascular Medicine Beth Israel Deaconess Medical Center and Harvard Medical School Boston Massachusetts USA

INSERM U1163 Laboratory of Hereditary Kidney Diseases Paris France

Institute for Inherited Metabolic Disorders Charles University Prague Prague Czech Republic

Institute of Physiology University of Zurich Zurich Switzerland

Molecular Genetics of Renal Disorders Unit Division of Genetics and Cell Biology Dulbecco Telethon Institute c o IRCCS San Raffaele Scientific Institute Milan Italy

Paris Descartes University Imagine Institute Paris France

Section on Nephrology Wake Forest School of Medicine Winston Salem North Carolina USA