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Polycystic Kidney
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Polycystic kidney disease

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Polycystic kidney disease is a disorder in which many clusters of cysts develop primarily within your kidneys. Cysts are noncancerous (benign), round sacs that contain water-like fluid. They vary in size from tiny sacs to sacs large enough to hold several quarts of fluid.

Having a benign kidney cyst is common. A benign, simple kidney cyst doesn't require treatment. And having one or more kidney cysts doesn't mean you have polycystic kidney disease.

Polycystic kidney disease isn't limited to your kidneys, although the kidneys usually are the most severely affected organs. The disease can cause cysts to develop in your liver, pancreas, membranes that surround your brain and central nervous system, and seminal vesicles. Other complications may occur as well.

The greatest risk for people with polycystic kidney disease is high blood pressure (hypertension) that develops as a result of their kidney disease. Complications from hypertension are the leading cause of death in people with this disease. Kidney failure also is common with polycystic kidney disease.

Abnormal genes are the cause, and there's no way of preventing or reversing the development of kidney cysts in affected people. But the disease varies greatly in its severity, and some complications are preventable. Regular checkups can lead to treatments to reduce damage to your kidneys from complications such as high blood pressure.

Signs and symptoms

Signs and symptoms of polycystic kidney disease may include:

Causes

Abnormal genes cause polycystic kidney disease, and the genetic defects mean the disease runs in families. The disease has two types, caused by different genetic flaws:

  • Autosomal dominant polycystic kidney disease (ADPKD). Signs and symptoms of this form often develop between the ages of 30 and 40. In the past, this type was called adult polycystic kidney disease. The illness does manifest itself in children in a small number of cases. Only one parent needs to have the disease in order for it to pass along to the children. If one parent has ADPKD, each child has a 50 percent chance of getting the disease. This form accounts for about 90 percent of cases of polycystic kidney disease.

  • Autosomal recessive polycystic kidney disease (ARPKD). This form is far less common than ADPKD. The signs and symptoms often appear shortly after birth. Sometimes, symptoms don't appear until later in childhood or during adolescence. Both parents must have abnormal genes to pass on this form of the disease. If both parents carry the genes for this disorder, each child has a 25 percent chance of getting the disease.

Research has identified at least three genes that may be responsible for ADPKD and one gene that may be responsible for ARPKD.

About one person in 10 with polycystic kidney disease has no family members with the disorder. In these cases, instead of inheriting a defective gene, the gene spontaneously mutates, causing polycystic kidney disease.

When to seek medical advice

It's not uncommon for people to have polycystic kidney disease for years without developing signs or symptoms and without knowing they have the disease. If you exhibit some of the signs and symptoms of polycystic kidney disease, which include high blood pressure, an increase in the size of your abdomen, blood in your urine, back or side pain, or kidney stones, see your doctor to determine what might be causing them. If you have a first-degree relative — parent, sibling or child — with ADPKD, see your doctor to discuss the pros and cons of screening for this disorder.

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This information is provided for general medical education purposes only and is not meant to substitute for the independent medical judgment of a physician relative to diagnostic and treatment options of a specific patient's medical condition.
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Last Modified : 03/15/08 01:52 AM