Polycystic Kidney Disease, Autosomal Dominant
Diagnosis

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.