ADPKD is a painful condition that can significantly affect quality of life. While a typical kidney is about the size of a human fist, polycystic kidneys can grow much larger—sometimes reaching the size of a football and weighing up to 30 pounds each.

Unlike some genetic diseases, ADPKD doesn’t skip generations, which means it often impacts multiple members of a family. About 10% of people diagnosed with ADPKD have no family history of the condition; this is called a spontaneous mutation. Once someone has ADPKD, whether inherited or from a new mutation, there’s a 50% chance they will pass it on to each of their children.

The Basics
How is ADPKD Diagnosed?

Ultrasounds, CTs, and MRIs are the three main tests used to diagnose ADPKD. DNA testing is also available.

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% of patients while mutations of the second gene, PKD2, account for the remaining patients.

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Your Body
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.

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