Furthermore, rare mutations in UMOD are causing autosomal dominant tubulointerstitial kidney disease (ADTKD-UMOD), a gain of toxic function disorder due to abnormal accumulation of mutant uromodulin aggregates in the TAL, leading to kidney fibrosis and CKD12,13. This evidence concerns the gene UMOD and autosomal dominant medullary cystic kidney disease with or without hyperuricemia.