Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.
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.
Department of Nephrology and Hypertension, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
Kai-Uwe
KU
Eckardt
Divisions of Nephrology and Molecular and Vascular Medicine, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts, USA.
Seth L
SL
Alper
INSERM U1163, Laboratory of Hereditary Kidney Diseases, Paris, France.|Paris Descartes University, Imagine Institute, Paris, France.
Corinne
C
Antignac
Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
Anthony J
AJ
Bleyer
Département de Néphrologie et Transplantation d'organes, CHU Rangueil, Toulouse, France.
Dominique
D
Chauveau
Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.
Karin
K
Dahan
Department of Biological Sciences, Molecular Medicine Research Center and Laboratory of Molecular and Medical Genetics, University of Cyprus, Nicosia, Cyprus.
Constantinos
C
Deltas
UKD Foundation, New York, New York, USA.
Andrew
A
Hosking
Institute for Inherited Metabolic Disorders, Charles University in Prague, Prague, Czech Republic.
Stanislav
S
Kmoch
Molecular Genetics of Renal Disorders Unit, Division of Genetics and Cell Biology, Dulbecco Telethon Institute c/o IRCCS San Raffaele Scientific Institute, Milan, Italy.
Luca
L
Rampoldi
Department of Nephrology and Hypertension, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
Michael
M
Wiesener
Division of Pediatric Nephrology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Matthias T
MT
Wolf
Institute of Physiology, University of Zurich, Zurich, Switzerland.
Olivier
O
Devuyst
D032921:Consensus; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D006073:Gout / Q000145:classification / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006801:Humans; D033461:Hyperuricemia / Q000145:classification / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D007674:Kidney Diseases / Q000145:classification / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D009154:Mutation; D009398:Nephrology / Q000592:standards*; D010641:Phenotype; D016891:Polycystic Kidney, Autosomal Dominant / Q000145:classification / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D011237:Predictive Value of Tests; D009626:Terminology as Topic; D016896:Treatment Outcome; D058949:Uromodulin / Q000145:classification / Q000172:deficiency* / Q000235:genetics
D058949:Uromodulin