Skip to main content

What is Polycystic kidney disease?

Polycystic kidney disease (PKD) is a genetic disorder characterized by the growth of numerous clusters of cysts (closed pockets or pouches of tissue) filled with fluid in the kidneys. PKD cysts can reduce kidney function and cause kidney failure. PKD can also cause cysts in the liver and problems in other organs, such as the heart and the blood vessels in the brain. Polycystic kidney disease is the fourth leading cause of kidney failure in the United States.


Some people don't have symptoms, so this disorder may be discovered during tests that are being performed for other reasons.

Symptoms of autosomal dominant polycystic kidney disease include:

  • Abdominal pain or tenderness
  • Flank pain on one or both sides
  • Detectable body mass
  • Pale color to skin
  • Bruise easily
  • Kidney stones
  • Blood in the urine
  • Excessive urination at night

Additional symptoms that may be associated with polycystic kidney disease include:

  • Drowsiness
  • High blood pressure
  • Joint pain
  • Nail abnormalities
  • Painful menstruation
  • High blood pressure
  • Aneurysms (bulging of the walls of blood vessels) in the brain
  • Diverticulosis (pouches in the intestines)
  • Urinary tract infections
  • Liver and pancreatic cysts
  • Abnormal heart valves

Symptoms of autosomal recessive polycystic kidney disease can begin before birth. Children born with the disease may develop kidney failure within a few years and often experience the following:

  • High blood pressure
  • Urinary tract infections
  • Frequent urination
  • Damage to liver, spleen and pancreas
  • Low blood cell counts
  • Varicose veins
  • Hemorrhoids


The exact action that triggers cyst formation is unknown. In early stages, the cysts cause the kidney to swell. The swelling disrupts kidney function and leads to chronic high blood pressure and kidney infections. The cysts may also cause the kidneys to produce more erythropoietin, a hormone that stimulates production of red blood cells. This leads to the production of too many red blood cells, rather than the opposite condition of anemia normally seen in chronic kidney disease.


There are two types of inherited PKD and one non-inherited type:

  • Autosomal dominant PKD disease is the most common inherited form of polycystic kidney disease and accounts for about 90 percent of all PKD cases. It occurs in children and adults, but is more common in adults.
  • Autosomal recessive PKD disease appears in infancy or childhood. This type is usually very serious and progresses rapidly, resulting in end-stage kidney failure.
  • Acquired cystic kidney disease (ACKD) is not an inherited kidney disease. Instead, it may develop in association with long-term kidney problems, mostly in those who have kidney failure and who have been on dialysis for a long time.
Go to top