It is genetically heterogenous with pathogenic variants in MUC1,3REN,4HNF1B5 and uromodulin (UMOD)6 identified, with UMOD comprising the highest proportion of ADTKD cases of up to 50%, with a disease prevalence of 9 per million.7 ADTKD-UMOD is estimated to account for 2% of patients with kidney failure,8 with susceptibility UMOD variants also conferring around 20% increased risk for CKD and 15% for hypertension.9 Classically, it is characterised by early onset gout, hyperuricaemia, the absence of haematuria or proteinuria and kidney failure usually occurring between 30 and 60 years. The gene discussed is MUC1; the disease is autosomal dominant medullary cystic kidney disease with or without hyperuricemia.