It shares some common features with autosomal dominant tubulointerstitial kidney diseases caused by mutations in MUC1 (mucin 1, 1q21) [2], HNF1B (HNF1beta, 17q12) [3], REN (renin, 1q32) [4] and SEC61A1 (Sec 61 translocon alpha 1 subunit, 3q21) [5]. Here, SEC61A1 is linked to autosomal dominant medullary cystic kidney disease with or without hyperuricemia.