Understanding Polycystic Kidney Disease

Polycystic kidney disease (PKD) is a genetic disorder in which clusters of cysts develop primarily within the kidneys. Cysts are noncancerous round sacs containing water-like fluid. The cysts vary in size and, as they accumulate more fluid, they can grow very large, resulting in massive enlargement of the kidneys.

PKD causes a variety of serious complications; cysts can slowly replace much of the kidneys, reducing kidney function and leading to kidney failure. In the United States about 600,000 peoplehave PKD. It is the fourth leading cause of kidney failure. It is found in all races and occurs equally in men and women. It causes about 5% of all kidney failure. About 50 percent of people with PKD will have kidney failure by age 60, and about 60 percent will have kidney failure by age 70.

High blood pressure is the most common sign of PKD. Other signs and symptoms may include: back or side pain, an increase in the size of the abdomen, blood in the urine, kidneys stones, and frequent bladder or kidney infections.
Although kidneys usually are the most severely affected organs, polycystic kidney disease can also damage the liver, pancreas and, in some rare cases, the heart and brain.

PKD runs in families. It is an inherited disorder that is passed from parents to children through genes.
There are two types of PKD: autosomal dominant polycystic kidney disease (ADPKD) and the less-common autosomal recessive polycystic kidney disease (ARPKD).
  • ADPKD accounts for about 90 percent of PKD cases. If one parent has the disorder, the chance of passing it down to their child is 50 percent. Problems usually start in adulthood.
  • ARPKD is much less common than ADPKD. It is also inherited. However, both parents must carry the gene for the disease. Problems typically develop soon after birth.

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