ADPKD is primarily caused by mutations in the PKD1 (80%) or PKD2 (20%) genes, which generate a mutated protein product called polycystin 1, a mechanoreceptor in the cilium [92], leading to the formation of renal cysts and, frequently, extrarenal manifestations such as hepatic cysts. The gene discussed is PKD1; the disease is autosomal dominant polycystic kidney disease.