Two patients and their families were presented in this paper with PKD1 and PKD2 mutations. Case 2, with 3 familial generations ADPKD, was diagnosed soon after birth with multiple small cortical cysts in both kidneys. The 4 year old male inherited a PKD1 and PKD2 mutation from each parent: c.7288C>T p.(Arg2430), and c.124_125ins52bp p.(Ala42fs66). A heterozygous variant in the VHL gene (NM_000551.3 (c.556G>A p.[Glu186Lys]) was additionally identified in this individual through a gene panel based Next Generation Sequencing approach. Patient is an offspring of a family with 3 generations of autosomal dominant polycystic kidney disease (ADPKD). Father had mild liver cysts and found to be a carrier of the truncating mutation in PKD1 at 18Y0M. Mother had mildly enlarged kidneys with small cysts bilaterally, as well as liver cysts and found to be a carrier of a truncating mutation in PKD2 at 19Y0M. No information provided on whether the parents possess the VHL mutation.