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.

Institute for Inherited Metabolic Disorders 1st Faculty of Medicine Charles University Prague Prague Czech Republic

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

Comment On

Kidney Int. 2014 Sep;86(3):589-99. doi: 10.1038/ki.2014.72. PubMed

References provided by Crossref.org

Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland

Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease

Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

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