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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:

• high blood pressure

• Back or side pain related to enlarged kidneys

• Abdominal pain

• Increase in the size of your abdomen

• Blood in your urine

• Kidney stones

• Kidney failure

• Kidney infection

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.

• high blood pressure

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