Autosomal Recessive Polycystic Kidney Disease

Autosomal recessive polycystic kidney disease is relatively rare. Because the condition is present at birth, it formerly was called infantile polycystic disease. The condition is bilateral, and significant renal dysfunction usually is present, accompanied by variable degrees of liver fibrosis and portal hypertension. The disorder can be diagnosed by ultrasonography.

There is no known treatment for the disease, and death often occurs in infancy often because the large kidneys compress the lungs. Some children may present with less severe kidney problems and more severe liver disease. The disorder is transmitted as a recessive trait, meaning that there is a one in four chance of the parents having another child with the disorder.