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

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

  • Kidney Int. 2015 Oct;88(4):676-83. doi: 10.1038/ki.2015.28.
Kai-Uwe Eckardt 1,  Seth L Alper 2,  Corinne Antignac 3 4,  Anthony J Bleyer 5,  Dominique Chauveau 6,  Karin Dahan 7,  Constantinos Deltas 8,  Andrew Hosking 9,  Stanislav Kmoch 10,  Luca Rampoldi 11,  Michael Wiesener 1,  Matthias T Wolf 12,  Olivier Devuyst 13,  Kidney Disease: Improving Global Outcomes
Affiliations

Affiliations

  • 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.
PMID: 25738250 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-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.

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