Autosomal dominant polycystic kidney disease (ADPKD), the most common monogenic cause of end-stage kidney disease and most common hereditary kidney disease, is caused by mutations in the polycystin-1 (PKD1) or polycystin-2 (PKD2) genes, leading to the formation of fluid-filled cysts mostly originating from distal tubules, due to abnormal cellular proliferation, fluid secretion and production of extracellular matrix [1, 2]. The gene discussed is PKD1; the disease is autosomal dominant polycystic kidney disease.