The role of UMOD in normal kidney function is incompletely understood, however, mutations of the UMOD gene are associated with autosomal dominant tubulointerstitial kidney disease (ADTKD-UMOD) which as previously been known as familial juvenile hyperuricaemic nephropathy (FJHN) and medullary cystic kidney disease (MCKD2), also known as UMOD-associated kidney diseases [19,20,21,22,23]. Here, UMOD is linked to familial juvenile hyperuricemic nephropathy type 1.