Polycystic Kidney Disease

Polycystic kidney disease is a condition in which fluid-filled cysts grow in the kidneys, eventually replacing much of the mass of the kidneys. This can potentially lead to kidney failure. Symptoms of polycystic kidney disease can include pain in the back and sides, blood in the urine, kidney stones, and high blood pressure. A few treatment options for the condition include medication, surgery, dialysis, and kidney transplantation.

 

What Is Polycystic Kidney Disease?

Polycystic kidney disease (PKD) is a genetic condition characterized by the growth of numerous fluid-filled cysts in the kidneys. PKD cysts may slowly replace much of the mass of the kidneys -- reducing kidney function and potentially leading to kidney failure.
 

Understanding the Kidneys and Polycystic Kidney Disease

The kidneys are two organs, each about the size of a fist, located toward the back of a person's upper abdomen. 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. Symptoms of polycystic kidney disease occur because of these cysts and the damage they cause.
 

Types of Polycystic Kidney Disease

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.
 

Causes of Polycystic Kidney Disease

In most causes, mutations in the PKD1, PKD2, and PKHD1 genes cause polycystic kidney disease. The type of polycystic kidney 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.
 

Symptoms of Polycystic Kidney Disease

Polycystic kidney disease symptoms seen in either autosomal dominant polycystic kidney disease or autosomal recessive polycystic kidney disease can include:
 
When polycystic kidney disease causes kidneys to fail, the patient requires 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).
 

Diagnosing Polycystic Kidney Disease

In order to make a polycystic kidney disease diagnosis, the doctor will ask a number of questions related to the person's medical history. This medical history will include questions about current symptoms, other medical conditions, medications a person is taking, and family history of any conditions, including polycystic kidney disease. The doctor will also perform a physical exam and order certain tests. Some of these tests can include:
 
  • Ultrasound
  • Magnetic resonance imaging (MRI)
  • Computerized tomography scan (CT scan)
  • Genetic testing.
     
(Click Polycystic Kidney Disease Diagnosis to learn more about diagnosing the different types of polycystic kidney disease.)
 

Treatment for Polycystic Kidney Disease

There is no PKD cure. Therefore, polycystic kidney disease treatment focuses on treating polycystic kidney disease symptoms and complications while improving the quality of life.
 
Specific treatments for polycystic kidney disease vary based on the particular symptoms and their severity. Some polycystic kidney treatment options include:
 
  • Medicine and surgery, to reduce pain
  • Antibiotics, to treat infections
  • Dialysis, to replace the function of failed kidneys
  • Kidney transplantation.
     

Polycystic Kidney Disease Diet

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.
 

How Common Is Polycystic Kidney Disease?

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 of polycystic kidney disease 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 Used for Polycystic Kidney Disease

Other names that people use for polycystic kidney disease include:
 
  • PKD
  • Polycystic renal disease.
     

More Polycystic Kidney Disease Information

Certain polycystic kidney disease topics mentioned above have a hyperlink to additional eMedTV articles. Click on the specific links to view the more detailed articles. Other eMedTV articles on polycystic kidney disease include:
 
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Written by/reviewed by: Arthur Schoenstadt, MD
Last reviewed by: Arthur Schoenstadt, MD