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Autosomal dominant tubulo-interstitial kidney disease due to mutations (ADTKD- ) is a rare condition associated with high variability in the age of end-stage kidney disease (ESKD). The minor allele of rs4293393, located in the promoter of the gene, is present in 19% of the population and downregulates uromodulin production by approximately 50% and might affect the age of ESKD. The goal of this study was to better understand the genetic and clinical characteristics of ADTKD- and to perform a Mendelian randomization study to determine if the