In 85% of cases where pathogenic genetic variants are found, ADPKD is the result of mutations in Polycystic Kidney Disease 1 (PKD1, OMIM #601313) (70% of cases) and Polycystic Kidney Disease 2 (PKD2, OMIM #613095) (30% of cases) genes [8,9]. The gene discussed is PKD2; the disease is polycystic kidney disease.