What is ADPKD?
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.
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How is ADPKD Diagnosed?
Ultrasounds, CTs, and MRIs are the three main tests used to diagnose ADPKD. DNA testing is also available for PKD.
What are the stages of ADPKD?
Kidney damage or a decrease in kidney function occurring over three or more months is called chronic kidney disease (CKD). There are five stages of CKD with progressive symptoms.
What causes ADPKD?
ADPKD is caused by mutations in two genes. Mutations of the first gene, PKD1, account for about 85 percent of patients while mutations of the second gene, PKD2, account for the remaining patients.
What are the symptoms?
There are often few or no symptoms early in the disease. As it progresses, people may experience high blood pressure, kidney pain, bloody urine, urinary tract infections, and kidney stones.
What are cysts?
A cyst in the kidney begins as an outpouching of the nephron, similar to a blister, and can occur anywhere along the length of the nephron. In general, cysts cause problems because of their size and the space they occupy.
What are the related health complications?
PKD can affect organs other than the kidneys. Potential issues include liver cysts, mitral valve prolapse, aneurysms, hernias, diverticulosis, and diabetes.
Page last reviewed June 2021