Autosomal dominant polycystic kidney disease

Diagnosis and Testing

How do I get tested for autosomal dominant polycystic kidney disease?

A doctor may suspect a diagnosis of autosomal dominant polycystic kidney disease (ADPKD) because of certain symptoms. This is particularly true if there is a family history of the disorder. A doctor will do a complete physical examination and talk about a patient and family's medical history. Enlargement of the kidneys or liver in a person with a family history of ADPKD is highly suggestive of having the disorder. Doctors may suspect the disorder because of high blood pressure, tears in the abdominal walls that allow parts of the intestines to push through (abdominal hernias), and mitral valve prolapse, a condition in with the mitral valve of the heart does not close properly, allowing blood to flow backward from the upper left chamber (left atria) into the lower left chamber (left ventricle).

If a person is suspected of having ADPKD or if there is a family history of the disorder, the first test they may undergo is an abdominal ultrasound. An ultrasound is commonly used because it is inexpensive and safe. An ultrasound uses high frequency sound waves to create a picture of internal organs like the kidneys. This test can show an enlarged kidney and the presence of multiple cysts in the kidneys that characterize ADPKD. More sensitive imaging techniques like computed tomography (CT) scans or magnetic resonance imaging (MRIs) are usually not required, but may be used in certain situations.

Doctors may recommend genetic testing to confirm a diagnosis. These tests involve studying PKD1 or PKD2 genes for changes (mutations) that cause ADPKD. At-risk members of the family who do not have symptoms can receive genetic testing to see whether they have the disorder. Most doctors believe that children under the age of 18 who have a family history of ADPKD and no symptoms should not be tested.

Sometimes, ADPKD is diagnosed because doctors see cysts on the kidneys or other organs when a person is being evaluated for another condition. This prompts the doctors to evaluate that person for ADPKD.

If you believe that you or your child has ADPKD, you can request or seek out a referral to a genetics clinic that may be more familiar with these disorders. The PKD Foundation may be able to provide referrals to physicians experienced in diagnosing and treating the disorder. The Genetics and Rare Diseases Information Center provides information on how to find healthcare professionals with experience in specific conditions, specialty treatment centers, genetics clinics, and researchers who are studying a specific condition.

If you suspect that someone in your family has ADPKD, you should also talk to a genetic counselor in your area. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

Harris PC, Torres VE. Polycystic Kidney Disease, Autosomal Dominant. GeneReviews website. Accessed Jan 20, 2017.

Torres VE, Bennett WM. Diagnosis and Screening for Autosomal Dominant Polycystic Kidney Disease. UpToDate website. Accessed Dec 14, 2016. Dominant Polycystic Kidney Disease. The National Organization for Rare Diseases website. Accessed Jan 20, 2016.

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