In addition, rare UMOD mutations have been identified in patients diagnosed with familial juvenile hyperuricemic nephropathy (FJHN), medullary cystic kidney disease 2 (MCKD2), and autosomal dominant tubulointerstitial kidney disease (ADTKD) [20,21]. Here, UMOD is linked to autosomal dominant medullary cystic kidney disease with or without hyperuricemia.