On the other hand, up to 8% of patients with suspected Autosomal Dominant PKD (ADPKD; MIM: 173900 and 613095), which is the most frequent cause of renal cystic phenotype, do not receive a molecular diagnosis despite comprehensive screening for PKD1 (Polycystin 1; MIM: 601313) and PKD2 (Polycystin 2; MIM: 173910) pathogenic variants [18]. This evidence concerns the gene PKD1 and autosomal dominant polycystic kidney disease.