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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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Your Question

My brother was been recently diagnosed with autosomal dominant polycystic kidney disease (ADPKD). I am interested in testing to determine if I will go on to develop symptoms in the future. What are symptoms of ADPKD? How is it diagnosed? What influences the age at which symptoms begin to appear?

Our Answer

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

What are the symptoms of autosomal dominant polycystic kidney diesase (ADPKD)?

The most common symptoms of ADPKD are pain in the back and the sides—between the ribs and hips—and headaches. The pain can be temporary or persistent, mild or severe. People with ADPKD may also experience the following complications:[1]

Last updated: 1/19/2010

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

What influences how early symptoms begin to appear in autosomal dominant polycystic kidney disease (ADPKD)?

In ADPKD, a clear association exists between the severity of kidney disease and the gene involved (PKD1 or PKD2). Mutations in PKD1 are associated with more severe disease with an earlier age at diagnosis. End-stage renal disease (ESRD) occurs on average 20 years earlier in people with PKD1 mutations (at age 54 versus age 74). In people with PKD2 mutations, males progress to ESRD more rapidly than females; no gender difference is seen with PKD1 mutations. Other genetic and environmental factors may also account for the substantial variability in severity of kidney disease and other manifestations of ADPKD.[3]
Last updated: 2/3/2009