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
  • 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.