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Genetic and Rare Diseases Information Center (GARD)

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Polycystic kidney disease


* Not a rare disease
Other Names for this Disease
  • PKD
  • Polycystic kidneys
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Your Question

My grandfather just recently found out he has polycystic kidney disease, and I am curious to know if I have it also. I am 20 years old and have experienced some symptoms. What is the best way to go about testing for this condition? What kinds of tests do they run?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How is autosomal dominant polycystic kidney disease (ADPKD) diagnosed?

ADPKD is usually diagnosed by kidney imaging studies. The most common form of diagnostic kidney imaging is ultrasound, but more precise studies, such as computerized tomography (CT) scans or magnetic resonance imaging (MRI) are also widely used. Kidney imaging results can also vary considerably, depending on a patient’s age. Younger patients usually have both fewer and smaller cysts. Doctors have developed specific criteria for diagnosing ADPKD with kidney imaging based on age. For example, the presence of at least two cysts in each kidney by age 30 in a person with a family history of the disease can confirm the diagnosis of ADPKD. [1]

In an individual with a positive family history of ADPKD, the enlargement of the kidneys or liver on physical examination is highly suggestive of the diagnosis. The presence of hypertension, mitral valve prolapse, or abdominal wall hernia is also suggestive of the diagnosis. Definite diagnosis, however, relies on the imaging described above or on a specific genetic test.[2]

The genetic testing for ADPKD detects changes (mutations) in two genes, called PKD1 and PKD2.[1] Genetic testing is typically performed first in people who have a diagnosis or symptoms of ADPKD. If a mutation is found, unaffected family members can be tested to determine if they will eventually develop the condition.[1] To see information about laboratories that perform genetic testing for ADPKD type 1, click here. For information about laboratories that perform genetic testing for ADPKD type 2, click here. Most of the laboratories listed do not accept direct contact from patients and their families; therefore, those who are interested in learning more may need to work with a health care provider or a genetics professional.
Last updated: 6/13/2011