Given her clinical diagnosis of ADTKD, hyperuricaemia and history of young-onset anaemia, urgent next generation sequencing was performed using the Illumina TruSight One sequencing kit and the data was analysed to search for pathogenic variants in HNF1B (NM_000458.2), REN (NM_000537.3) and UMOD (NM_003361.2). Here, HNF1B is linked to autosomal dominant medullary cystic kidney disease with or without hyperuricemia.