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Genetic and Rare Diseases Information Center (GARD)

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Autosomal dominant polycystic kidney disease


* Not a rare disease
Other Names for this Disease
  • Polycystic kidney disease, adult type
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What is autosomal dominant polycystic kidney disease (ADPKD)?

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

What is autosomal dominant polycystic kidney disease (ADPKD)?

Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the growth of numerous cysts in the kidneys. It is the most common inherited disorder of the kidneys. Symptoms usually develop between the ages of 30 and 40, but they can begin earlier, even in childhood. The most common symptoms are pain in the back and the sides and headaches. Other symptoms include liver and pancreatic cysts, urinary tract infections, abnormal heart valves, high blood pressure, kidney stones, brain aneurysms, and diverticulosis. About 90 percent of all cases of polycystic kidney disease (PKD) are inherited in an autosomal dominant fashion.  Although there is no cure for ADPKD, treatment can ease symptoms and prolong life.[1]
Last updated: 6/22/2011

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

  1. Polycystic Kidney Disease. National Kidney and Urologic Diseases Information Clearinghouse. November 2007; Accessed 6/22/2011.
  2. Peter C Harris, Vicente E Torres. Polycystic Kidney Disease, Autosomal Dominant. GeneReviews. June 2, 2009; Accessed 6/13/2011.