title: Autosomal dominant tubulointerstitial kidney disease: of names and genes.
abstract: Autosomal dominant tubulointerstitial kidney disease (ADTKD) refers to a group of conditions characterized by autosomal dominant inheritance, a bland urinary sediment with minimal blood and protein, pathologic changes of tubular and interstitial fibrosis, and slowly progressive chronic kidney disease. This commentary discusses recent advances in our medical knowledge of these conditions, including the recent identification of mutations in the MUC1 gene as a cause of ADTKD and changes in terminology proposed by Ekici et al.
authors.affiliation: Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
authors.forename: Anthony J
authors.initials: AJ
authors.lastname: Bleyer
authors.affiliation: Institute for Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.
authors.forename: Stanislav
authors.initials: S
authors.lastname: Kmoch
mesh_terms: D002869:Chromosome Aberrations; D002878:Chromosomes, Human, Pair 1; D002885:Chromosomes, Human, Pair 16; D005260:Female; D006801:Humans; D007684:Kidney Tubules / Q000473:pathology*; D008297:Male; D018396:Mucin-1 / Q000235:genetics*; D009395:Nephritis, Interstitial / Q000235:genetics* / Q000473:pathology*; D058949:Uromodulin / Q000235:genetics*
chemical_list: D018396:Mucin-1; D058949:Uromodulin