About Polycystic Kidney Disease

Polycystic kidney disease (PKD) is an inherited disorder in which clusters of cysts develop primarily within your kidneys, causing your kidneys to enlarge and lose function over time. Cysts are noncancerous round sacs containing fluid. The cysts vary in size, and they can grow very large. Having many cysts or large cysts can damage your kidneys.

Polycystic kidney disease can also cause cysts to develop in your liver and elsewhere in your body. The disease can cause serious complications, including high blood pressure and kidney failure.

PKD varies greatly in its severity, and some complications are preventable. Lifestyle changes and treatments might help reduce damage to your kidneys from complications.

Symptoms

Polycystic kidney disease symptoms can include:

• High blood pressure
• Back or side pain
• Blood in your urine
• A feeling of fullness in your abdomen
• Increased size of your abdomen due to enlarged kidneys
• Changes in how much you urinate
• Headaches
• Kidney stones
• Kidney failure
• Urinary tract or kidney infections

Causes

Abnormal genes cause polycystic kidney disease, which means that in most cases, the disease runs in families. Sometimes, a genetic mutation occurs on its own (spontaneous), so that neither parent has a copy of the mutated gene. The two main types of polycystic kidney disease, caused by different genetic flaws, are:

• Autosomal dominant polycystic kidney disease (ADPKD). Signs and symptoms of ADPKD often develop between the ages of 30 and 40. In the past, this type was called adult polycystic kidney disease, but children can develop the disorder. Only one parent needs to have the disease for it to pass to the children. If one parent has ADPKD, each child has a 50% chance of getting the disease. This form accounts for most of the cases of polycystic kidney disease.
• Autosomal recessive polycystic kidney disease (ARPKD). This type is far less common than is 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 a gene for this disorder, each child has a 25% chance of getting the disease.