ADTKD is a genetically heterogeneous disease, caused by mutations in UMOD, MUC1 (mucin 1), HNF1B (hepatocyte nuclear factor 1β), REN (renin) and SEC61A1 (α1 subunit of translocon 61). Here, UMOD is linked to autosomal dominant medullary cystic kidney disease with or without hyperuricemia.