In total, 1 in 1000 individuals carries a germline mutation in the PKD1 or PKD2 gene, which
leads to autosomal dominant polycystic kidney disease (ADPKD). Cysts can form early in life
and progressively increase in number and size during adulthood. Extensive research has
led to the presumption that somatic inactivation of the remaining allele initiates the formation
of cysts, and the progression is further accelerated by renal injury. However, this hypothesis
is primarily on the basis of animal studies, in which the gene is inactivated simultaneously in …