Polycystic kidney disease (pkd)

[Dave Paprocki]

Polycystic kidney disease is a hereditary disorder in which many fluid-filled sacs (cysts) form in both kidneys. The kidneys grow larger but have less functioning tissue.

Polycystic kidney disease is caused by an inherited gene defect.
Some people have such mild symptoms that they do not realize they have a disorder, but others have pain in the side, blood in the urine, high blood pressure, and crampy pain caused by kidney stones.
Diagnosis is based on ultrasonography, computed tomography, or magnetic resonance imaging of the kidneys.
The kidney stones and infections are treated, but more than half of affected people eventually need dialysis or kidney transplantation.

There are several genetic defects that cause polycystic kidney disease (PKD). Several types are caused by dominant genes, and one rare type is caused by a recessive gene. That is, a person with the disease has inherited either one copy of a dominant gene from one parent or two copies of a recessive gene, one from each parent. People with dominant gene inheritance usually have no symptoms until adulthood. People with recessive gene inheritance develop severe illness in childhood.
The genetic defect leads to the widespread formation of cysts in the kidneys. Gradual enlargement of the cysts with increasing age is accompanied by a reduction of blood flow and scarring within the kidneys. Cysts may become infected or bleed. Kidney stones may develop. Chronic kidney disease can occur eventually. The genetic defect may also cause cysts to develop in other parts of the body, such as the liver and pancreas.