Polycystic kidney disease results in malformed kidneys, which are filled with small sacs, or cysts, instead of normal kidney tissue. This leads to kidney problems including kidney failure, which can lead to death. Abnormalities in other areas of the body may also occur. Signs and symptoms depend on the type of polycystic kidney disease. Children with the infantile form of PKD often have very large, malformed kidneys at birth.
Most affected children die in the first few days of life.
Children with the childhood form of PKD usually get symptoms before adulthood. In addition, these children often develop scar tissue in the liver that can cause liver failure or bleeding in the gut. Many children die from infections, kidney failure, or liver failure before or during early adulthood. Other children have a milder course and may even have no symptoms until adulthood. The adult form of PKD is the most common form.