While the specific gene affected and the nature of the mutation contribute to variations in the clinical presentation of autosomal dominant polycystic kidney disease (ADPKD)—with PKD1 patients experiencing more severe renal impairment and accelerated disease progression compared to those with PKD2 mutations, and PKD1 truncating mutations leading to a more severe phenotype than non-truncating mutations—it is essential to note that significant differences in the clinical characteristics of ADPKD patients cannot be entirely accounted for by the specific gene mutation (8, 25, 26). This evidence concerns the gene PKD1 and autosomal dominant polycystic kidney disease.