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Diseases

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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is polycystic kidney disease?

What are the signs and symptoms of polycystic kidney disease?

What is polycystic kidney disease?

Polycystic kidney disease refers to a group of inherited kidney disorders characterized by the presence of multiple cysts in both kidneys. Normal kidney tissue is replaced by fluid-filled sacs that interfere with the their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver. However, signs and symptom severity can vary greatly from person to person. Treatment is tailored to the individual based upon their signs and symptoms.[1]

The two major forms of polycystic kidney disease are distinguished by the usual age of onset and their pattern of inheritance:[1]

(1) Autosomal dominant polycystic kidney disease (ADPKD) is the most common form that usually causes symptoms between the ages of 30 and 40; but they can begin earlier, even in childhood. ADPKD can be further divided into type 1 and type 2, depending on the underlying genetic cause.[1]

(2) Autosomal recessive polycystic kidney disease (ARPKD) is a rare form that usually causes symptoms in infancy and early childhood and is often lethal early in life. Some people with ARPKD do not develop symptoms until later in childhood or even adulthood.[2]
Last updated: 12/8/2011

What are the signs and symptoms of polycystic kidney disease?

Signs and symptoms vary greatly from person to person. But affected individuals typically develop multiple cysts in both kidneys, which impair their ability to filter waste products from the blood. Later in the disease, the cysts cause the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver.[1]

Frequent complications of polycystic kidney disease include dangerously high blood pressure (hypertension), severe pain in the back or sides, blood in the urine (hematuria), recurrent urinary tract infections, kidney stones, and heart valve abnormalities. People with this condition also have an increased risk an aortic aneurysm in the brain (an abnormal bulging of the large blood vessel at the base of the brain). Aneurysms can be life-threatening if they tear or rupture.[1]

Last updated: 12/8/2011

References
  1. Polycystic kidney disease. Genetics Home Reference. 2006; http://ghr.nlm.nih.gov/condition/polycystic-kidney-disease. Accessed 12/8/2011.
  2. Polycystic Kidney Disease. National Kidney and Urologic Diseases Information Clearinghouse (NKUDIC). 2010; http://kidney.niddk.nih.gov/kudiseases/pubs/polycystic/. Accessed 12/8/2011.


Other Names for this Disease
  • PKD
  • Polycystic kidneys
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.