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.

Centre de Génétique Humaine Institut de Pathologie et de Génétique Gosselies Belgium

Département de Néphrologie et Transplantation d'organes CHU Rangueil Toulouse France

Department of Biological Sciences Molecular Medicine Research Center and Laboratory of Molecular and Medical Genetics University of Cyprus Nicosia Cyprus

Department of Nephrology and Hypertension Friedrich Alexander Universität Erlangen Nürnberg Erlangen Germany

Division of Pediatric Nephrology University of Texas Southwestern Medical Center Dallas Texas USA

Divisions of Nephrology and Molecular and Vascular Medicine Beth Israel Deaconess Medical Center and Harvard Medical School Boston Massachusetts USA

INSERM U1163 Laboratory of Hereditary Kidney Diseases Paris France

Institute for Inherited Metabolic Disorders Charles University Prague Prague Czech Republic

Institute of Physiology University of Zurich Zurich Switzerland

Molecular Genetics of Renal Disorders Unit Division of Genetics and Cell Biology Dulbecco Telethon Institute c o IRCCS San Raffaele Scientific Institute Milan Italy

Paris Descartes University Imagine Institute Paris France

Section on Nephrology Wake Forest School of Medicine Winston Salem North Carolina USA

UKD Foundation New York New York USA

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Nefrologia (Engl Ed). 2024 Jan-Feb;44(1):105-107. doi: 10.1016/j.nefroe.2024.02.001. PubMed

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