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Kidney Int. 2015 Oct;88(4):676-83. doi: 10.1038/ki.2015.28. Epub 2015 Mar 4.

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

Author information

1
Department of Nephrology and Hypertension, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
2
Divisions of Nephrology and Molecular and Vascular Medicine, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts, USA.
3
INSERM U1163, Laboratory of Hereditary Kidney Diseases, Paris, France.
4
Paris Descartes University, Imagine Institute, Paris, France.
5
Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
6
Département de Néphrologie et Transplantation d'organes, CHU Rangueil, Toulouse, France.
7
Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.
8
Department of Biological Sciences, Molecular Medicine Research Center and Laboratory of Molecular and Medical Genetics, University of Cyprus, Nicosia, Cyprus.
9
UKD Foundation, New York, New York, USA.
10
Institute for Inherited Metabolic Disorders, Charles University in Prague, Prague, Czech Republic.
11
Molecular Genetics of Renal Disorders Unit, Division of Genetics and Cell Biology, Dulbecco Telethon Institute c/o IRCCS San Raffaele Scientific Institute, Milan, Italy.
12
Division of Pediatric Nephrology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
13
Institute of Physiology, University of Zurich, Zurich, Switzerland.

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.

PMID:
25738250
DOI:
10.1038/ki.2015.28
[Indexed for MEDLINE]

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