In three independent families with seven, two and one patient(s), respectively, suffering from autosomal dominant tubulointerstitial kidney disease (ADTKD) and glomerulocystic kidney disease with congenital anemia, respectively, heterozygous SEC61A1 mutations were identified. The gene discussed is SEC61A1; the disease is autosomal dominant medullary cystic kidney disease with or without hyperuricemia.