PKD1 and autosomal dominant polycystic kidney disease: ADPKD is caused by heterozygous pathogenic variants in the genes PKD1 (ADPKD1, OMIM #173900) and PKD2 (ADPKD2, OMIM #613095), which comprise about 80% and 5-10% of total cases, respectively (127, 129, 130) (128, 131).