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. Epub 2015 Mar 4.


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.

Publication types

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

MeSH terms

  • Consensus
  • DNA Mutational Analysis
  • Genetic Predisposition to Disease
  • Gout* / classification
  • Gout* / diagnosis
  • Gout* / genetics
  • Gout* / therapy
  • Humans
  • Hyperuricemia* / classification
  • Hyperuricemia* / diagnosis
  • Hyperuricemia* / genetics
  • Hyperuricemia* / therapy
  • Kidney Diseases* / classification
  • Kidney Diseases* / diagnosis
  • Kidney Diseases* / genetics
  • Kidney Diseases* / therapy
  • Mutation
  • Nephrology / standards*
  • Phenotype
  • Polycystic Kidney, Autosomal Dominant* / classification
  • Polycystic Kidney, Autosomal Dominant* / diagnosis
  • Polycystic Kidney, Autosomal Dominant* / genetics
  • Polycystic Kidney, Autosomal Dominant* / therapy
  • Predictive Value of Tests
  • Terminology as Topic
  • Treatment Outcome
  • Uromodulin / classification
  • Uromodulin / deficiency*
  • Uromodulin / genetics


  • Uromodulin

Supplementary concepts

  • Juvenile gout
  • Medullary Cystic Kidney Disease 2
  • Medullary cystic kidney disease 1