Polycystic Kidney Disease

This information is useful for children and adults
worried young man
Why Yale Medicine?
  • A Chronic Kidney Disease Program offering patients a broad range of expertise
  • Physicians researching the latest treatment methods
  • Clinical trials offering patients access to innovative treatments

Polycystic kidney disease causes fluid-filled sacs called cysts to grow in the kidneys. The cysts can become large and cause scarring, which eventually harms the organs’ function. This disease is caused by a gene mutation, usually passed down by a parent.

While symptoms often first appear in young adulthood, polycystic kidney disease, or PKD, usually progresses slowly and variably in different patients. About half of patients will eventually need either kidney dialysis or a kidney transplant as a result of end-stage kidney failure.

“It usually takes more than five decades for individuals to progress to that degree of kidney injury,” says Stefan Somlo, MD, chief of nephrology at Yale Medicine and a professor of medicine (nephrology) at Yale School of Medicine.

People with polycystic kidney disease may develop high blood pressure as a first symptom. This can occur even before cysts are visible in the kidneys. Other early symptoms may include flank pain along the sides of the lower back.

“It can either be very acute or a more chronic aching,” says Dr. Somlo. Some patients report a feeling of fullness in the same area and may have blood in their urine.

Recurring urinary tract infections (UTIs) in young men may also suggest polycystic kidney disease. People with polycystic kidney disease are also more prone to kidney stones.

In addition, polycystic kidney disease is associated with the development of cysts in the bile ducts of the liver. “While the liver function remains intact, in some patients the liver can grow to such a degree that it creates discomfort,” Dr. Somlo says.

Some people with a PKD mutation may also have increased risk of aneurysms in the brain.

Clinical Trials

New treatments for many conditions are tested in clinical trials, which ultimately bring lifesaving new drugs and devices to the patients who need them most. By participating in a clinical trial, you may get access to the most advanced treatments for your condition, and help determine their benefits for future patients.