Autosomal dominant polycystic kidney disease (ADPKD) is one of the main causes of end-stage renal disease (ESRD). Since it is caused by mutations either in PKD1 or PKD2, genetic information is utmost important in understanding pathogenesis of ADPKD. Therefore, this study aimed to demonstrate genetic characteristics of ADPKD and its effect on renal function in 749 Korean ADPKD subjects from 524 unrelated families.