PKD1 and autosomal dominant polycystic kidney disease: While exemptions from dominant and recessive inheritance in ADPKD and ARPKD have been reported before (Mantovani et al., 2020; Obeidova et al., 2020), we aim at illustrating the complexity of PKD genetics through peculiar genetic alterations of both PKD1 and PKHD1 in three young adult females and one male infant.