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Polycystic Kidney Disease
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Polycystic kidney disease (PKD) is a genetic condition characterized by the growth of numerous fluid-filled cysts in the kidneys. These cysts may slowly replace much of the mass of the kidneys -- reducing kidney function and potentially leading to kidney failure.
The kidneys are two organs, each about the size of a fist, located toward the back of a person's upper abdomen (stomach). The kidneys filter wastes from the blood to form urine. They also regulate amounts of certain vital substances in the body.
When a person has polycystic kidney disease, clusters of fluid-filled sacs (cysts) develop in the kidneys and interfere with 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, spleen, and pancreas. Polycystic kidney disease symptoms occur because of these cysts and the damage they cause.
There are three types of polycystic kidney disease:
Both autosomal dominant and autosomal recessive are inherited polycystic kidney disease types; acquired cystic kidney disease is not inherited, but is associated with long-term kidney problems, dialysis, and old age.
In most cases, mutations in the PKD1, PKD2, and PKHD1 genes cause polycystic kidney disease. The type of disease is determined by which combination of these genes is affected.
Mutations in the PKD1 and PKD2 genes cause autosomal dominant polycystic kidney disease. The PKD1 gene is located on chromosome 16; the PKD2 gene is located on chromosome 4. The cause of autosomal recessive polycystic kidney disease is a mutation in the PKHD1 gene located on chromosome number 6.
(Click Polycystic Kidney Disease Causes for more information.)
Polycystic kidney disease symptoms seen in either autosomal dominant or autosomal recessive types can include:
When polycystic kidney disease causes kidneys to fail, a person needs dialysis or kidney transplantation. About one-half of people with autosomal dominant polycystic kidney disease progress to kidney failure, also called end-stage renal disease (ESRD).
In order to make a definitive diagnosis, your doctor will ask a number of questions related to your medical history. This will include questions about current symptoms, other medical conditions, medications you are taking, and family history of any conditions, including polycystic kidney disease. Your doctor will also perform a physical exam and order certain tests. Some of these tests can include:
(Click Polycystic Kidney Disease Diagnosis to learn more about how each type is diagnosed.)
There is no PKD cure. Therefore, polycystic kidney disease treatment focuses on relieving symptoms and complications while improving the quality of life.
Specific treatments vary based on the particular symptoms and their severity. Some treatment options include:
At this point, there is no polycystic kidney disease diet that has been shown to affect how many cysts develop or how large the cysts become. Limiting salt intake is important for those with high blood pressure in addition to polycystic kidney disease. A low-fat, moderate-calorie diet is also important to prevent obesity.
Polycystic kidney disease is one of the most common inherited disorders caused by mutations in a single gene. It affects about 500,000 people in the United States. The autosomal dominant form is much more common than the autosomal recessive form. Autosomal dominant polycystic kidney disease affects 1 in every 400 to 1,000 people, while the autosomal recessive type is estimated to occur in 1 in every 20,000 to 40,000 people.
Other names for this condition include:
Certain polycystic kidney disease topics mentioned in this article have a hyperlink to additional eMedTV articles. Click the specific link to view the article. Other eMedTV articles on polycystic kidney disease include:
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