Polycystic Kidney Disease, Autosomal Dominant

The autosomal dominant form of polycystic kidney disease (PKD) causes fluid-filled cysts to grow in the kidneys. Cysts may also form in other organs, including the liver and pancreas. For many patients, so many cysts develop that they eventually cause kidney failure, making dialysis or a transplant necessary.

About 540,000 people in the U.S. have autosomal dominant PKD, making it the most common inherited kidney disorder.

Causes and Forms of Autosomal Dominant PKD

PKD is a genetic disease. "Autosomal dominant" means that if one parent has the disease-causing genetic variation, each child will have a 50 percent chance of getting the disease. If a child doesn't inherit the variation, he or she can't pass along disease risk to the next generation.

Ninety percent of PKD cases are autosomal dominant. In the rarer autosomal recessive version of PKD, the cysts start to form in infancy or even in the womb.

There are two forms of autosomal dominant PKD, each caused by an abnormality in a different gene: PKD1 or PKD2. The PKD1 form is more common, accounting for 85 percent of cases, and more severe. Symptoms usually start when patients are in their 30s and the disease often progresses more rapidly to kidney failure.

The milder form, PKD2 disease, usually manifests later in life, and is less likely to result in kidney failure except at much older ages.

The most common warning signs of autosomal dominant PKD are pain in the side or back, and headaches. Some people also experience blood in the urine, frequent urinary tract infections, high blood pressure and kidney stones.

Most often, symptoms surface when patients are in their 30s or 40s, though occasionally they begin in childhood. Patients with a family history of PKD may be tested and diagnosed before experiencing any symptoms.

Serious complications of autosomal dominant PKD can include aneurysms (bulges in blood vessels in the brain), heart valve problems and diverticulosis (bulges in the wall of the colon). These complications are usually familial — in other words, your risk of aneurysm is higher if a family member with PKD has had an aneurysm.

If PKD is suspected, doctors most often use ultrasound tests to diagnose it. Ultrasound passes sound waves through the body to create an image of the kidneys and is safe for all patients, including pregnant women. More powerful imaging tests, including computerized tomography (CT) and magnetic resonance imaging (MRI) scans, can also be helpful in certain settings.

In a person with a family history of autosomal dominant PKD, having at least two cysts in each kidney by age 30 confirms the diagnosis.

It's possible to develop the disease even if you don't know of anyone in your family who has had it. Because symptoms can take many years to appear, a family member could have had autosomal dominant PKD but died before being diagnosed. Occasionally the disease occurs because of a spontaneous genetic mutation, without any family history of the disease.

In families affected by PKD, relatives sometimes get a test to find out if they carry the disease-causing genetic variation. If you're considering such a test, it's a good idea to consult with a genetic counselor to help you sort through the pros and cons of undergoing testing.

Unfortunately, there is no cure for autosomal dominant PKD. Once a diagnosis is made, your doctor will want to work with you to reduce pain and discomfort, minimize complications and keep your kidneys healthy for as long as possible. Here are some measures that may help.

Evaluating Headaches

See your doctor if you have severe or recurring headaches — especially if they feel different from other headaches you've had. They could be caused by an aneurysm in the brain, which could be extremely dangerous if it ruptures.

With small aneurysms, you can lessen the danger by keeping blood pressure and cholesterol under control, and by not smoking. If you have a larger aneurysm, your doctor may advise surgery to clip it.

Managing Pain

PKD-related pain can have many causes. Most commonly, the pain manifests as a dull ache in the back or sides; this type of pain is thought to be caused by the enlarged kidneys putting pressure on cyst walls or on other organs. Other causes may include infection of the cysts, bleeding into the cysts or kidney stones. You should see your doctor to determine what's causing your pain, because treatment needs to be tailored appropriately.

Show More

UCSF Research & Clinical Trials

Other Resources


Reviewed by health care specialists at UCSF Medical Center.

Related Information

UCSF Clinics & Centers

PKD Center of Excellence
400 Parnassus Ave., B1 Plaza Level
San Francisco, CA 94143
Phone: (415) 514-2381
Appointment information

Related Conditions