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

• DOI: 10.1038/ki.2015.28
• Publication Date: 2015-03-04T17:27:58Z
• Authors: Kai-Uwe Eckardt; Seth L. Alper; Corinne Antignac; Anthony J. Bleyer; Dominique Chauveau; Karin Dahan; Constantinos Deltas; Andrew Hosking; Stanislav Kmoch; Luca Rampoldi; Michael Wiesener; Matthias T. Wolf; Olivier Devuyst
• Keywords: glomerulus filtration rate; genetic association; Gout; uromodulin; kidney disease; DNA Mutational Analysis; treatment contraindication; hyperuricemia; 10052 Institute of Physiology; preprorenin; REN gene; Tamm Horsfall glycoprotein; 0302 clinical medicine; medical terminology; genetics; gene mutation; autosomal dominant tubulointerstitial kidney disease; pathophysiology; HNF1B gene; 2727 Nephrology; predictive value; consensus development; hepatocyte nuclear factor-1β; genetic screening; deficiency; Polycystic Kidney, Autosomal Dominant; 3. Good health; genetic code; Phenotype; Treatment Outcome; priority journal; classification; diagnostic test; Nephrology; standards; nomenclature; Kidney Diseases; Consensus; phenotype; disease classification; nephrology; kidney transplantation; 610 Medicine & health; MUC1 gene; Hyperuricemia; Article; medication therapy management; UMOD gene; 03 medical and health sciences; gout; Predictive Value of Tests; Terminology as Topic; Uromodulin; follow up; Humans; Genetic Predisposition to Disease; human; practice guideline; hepatocyte nuclear factor 1beta; mucin 1; clinical feature; renin; consensus; nephronophthisis; Mutation; treatment outcome; 570 Life sciences; biology; genetic disorder; mutation; genetic predisposition; dna mutational analysis; mucin-1

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.