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Polycystic Kidney Disease
(PKD)

What is Polycystic Kidney Disease?

Polycystic kidney disease (PKD) is a genetic disorder characterized by the growth of numerous cysts in the kidneys. The kidneys are two organs, each about the size of a fist, located in the upper part of a person's abdomen, toward the back. The kidneys filter wastes and extra fluid from the blood to form urine. They also regulate amounts of certain vital substances in the body. When cysts form in the kidneys, they are filled with fluid. PKD cysts can profoundly enlarge the kidneys while replacing much of the normal structure, resulting in reduced kidney function and leading to kidney failure.

When PKD causes kidneys to fail-which usually happens after many years-the patient requires dialysis or kidney transplantation. About one-half of people with the most common type of PKD progress to kidney failure, also called end-stage renal disease (ESRD).

PKD can also cause cysts in the liver and problems in other organs, such as blood vessels in the brain and heart. The number of cysts as well as the complications they cause help doctors distinguish PKD from the usually harmless "simple" cysts that often form in the kidneys in later years of life.

In the United States, about 600,000 people have PKD, and cystic disease is the fourth leading cause of kidney failure. Two major inherited forms of PKD exist:

  • Autosomal dominant PKD is the most common inherited form. Symptoms usually develop between the ages of 30 and 40, but they can begin earlier, even in childhood. About 90 percent of all PKD cases are autosomal dominant PKD.

  • Autosomal recessive PKD is a rare inherited form. Symptoms of autosomal recessive PKD begin in the earliest months of life, even in the womb.


Next: What is autosomal dominant PKD? »

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Polycystic Kidney Disease

What are the kidneys?

The kidneys play key roles in body function, not only by filtering the blood and getting rid of waste products, but also by balancing levels of electrolytes in the body, controlling blood pressure, and stimulating the production of red blood cells.

The kidneys are located in the abdomen toward the back, normally one of each side of the spine. They get their blood supply through the renal arteries directly from the aorta and send blood back to the heart via the renal veins to the vena cava. (The term "renal" is derived from the Latin name for kidney.)

The kidneys have the ability to monitor the amount of body fluid, the concentrations of electrolytes like sodium and potassium, and the acid-base balance of the body. They filter waste products of body metabolism, like urea from protein metabolism and uric acid from DNA breakdown. Two waste products in the blood can be measured: blood urea nitrogen (BUN) and ...

Read the Kidney Failure article »











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