Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary
kidney disease and one of the most common causes of end-stage kidney disease. Multiple
clinical manifestations, such as enlarged kidneys filled with growing cysts, hypertension, and
multiple extrarenal complications, including liver cysts, intracranial aneurysms, and cardiac
valvular disease, show that ADPKD is a systemic disorder. New information derived from
clinical research using molecular genetics and advanced imaging techniques has provided …

Autosomal dominant polycystic kidney disease (ADPKD), the most common inherited kidney
disorder, is caused by mutations in PKD1 or PKD2. The molecular diagnosis of ADPKD is
complicated by extensive allelic heterogeneity and particularly by the presence of six highly
homologous sequences of PKD1 exons 1–33. Here, we screened PKD1 and PKD2 for both
conventional mutations and gross genomic rearrangements in up to 700 unrelated ADPKD
patients—the largest patient cohort to date—by means of direct sequencing, followed by …