Polycystic Kidney Disease (PKD)

Polycystic kidney disease (PKD) facts

*Polycystic kidney disease facts medically edited by:

  • Polycystic kidney disease (PKD) is a genetic disorder characterized by the growth of numerous cysts in the kidneys.
  • Autosomal dominant PKD is the most common inherited form while autosomal recessive PKD is a rare.
  • Common symptoms of autosomal dominant PKD are pain in the back and the sides-between the ribs and hips-and headaches. The pain can be temporary or persistent and variable in intensity (mild to severe); symptoms usually develop in adults.
  • Autosomal dominant PKD is usually diagnosed by kidney imaging studies (CT or MRI).
  • Autosomal dominant PKD has no cure; it is treated by reducing symptoms.
  • Autosomal recessive PKD is caused by a mutation in the autosomal recessive PKD gene, called PKHD1 that often results in kidney failure before adulthood.
  • Autosomal recessive PKD symptoms develop in children and include high blood pressure, UTI's, urinary frequency, stunted growth, low blood counts, and varicose veins.
  • Autosomal recessive PKD is often diagnosed by ultrasound in the fetus or newborn.
  • Autosomal recessive PKD has no cure; treatment is done to reduce the symptoms (blood pressure reduction, antibiotics and even dialysis or transplants.
  • PKD is a genetic disease; genetic diseases occurs when one or both parents pass abnormal genes to a child at conception.
  • Research at the NIH and other institutions may provide better treatments in the future.

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 600,0001 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.
Medically Reviewed by a Doctor on 3/19/2014

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