Autosomal dominant polycystic kidney disease, ADPKD, is one of the most common, life-threatening genetic diseases. In ADPKD, fluid-filled cysts develop and enlarge in both kidneys, eventually leading to kidney failure. It is the fourth leading cause of kidney failure and more than 50 percent of people with ADPKD will develop kidney failure by age 50. Once a person has kidney failure, dialysis or a transplant are the only options.
ADPKD is a painful disease that impacts quality of life. The average size of a typical kidney is a human fist. Polycystic kidneys can get much larger, some growing as large as a football, and weighing up to 30 pounds each.
Unlike some genetic diseases, ADPKD does not skip a generation meaning it often affects many people in one family. Approximately 10 percent of the people diagnosed with ADPKD have no family history of the disease, with the disease developing as a spontaneous (new) mutation. Once a person has ADPKD, even through a spontaneous mutation, they have a 50 percent chance of passing it on to each of their children.