PKD1 and autosomal dominant polycystic kidney disease: The vast majority of patients with ADPKD carry germline mutations in PKD1 or PKD2. Regarding ESRD, a clear genotype-phenotype correlation has been demonstrated, patients with PKD1 truncating mutations reaching ESRD earlier than those with PKD2 mutations and those with PKD1 non-truncating mutations having an intermediate phenotype3,4.