The kidney is an organ that filters waste and extra fluid from the blood and produces urine. Individuals have two kidneys, and they are located in the upper part of the abdomen. Autosomal dominant polycystic kidney disease (autosomal dominant PKD) is an inherited genetic condition that affects the function of the kidneys.
In patients with autosomal dominant PKD, small fluid-filled sacs called cysts form on the kidneys. These cysts replace most of the normal kidney tissue, causing the kidney to become enlarged and leading to loss of kidney function and eventually, kidney failure, which may be life-threatening if not properly treated. About one-half of patients with autosomal dominant PKD develop kidney failure. Some patients may also develop infections of the urinary tract or may have blood in their urine, which is usually caused by bleeding into a cyst following rupture of the cyst.
When kidneys begin to fail, patients may be treated with dialysis (filtering the blood in a different way, such as with an external filter) or with a kidney transplant.
A common symptom in patients with autosomal dominant PKD is pain in the back and sides. Pain may be caused by infection of the cysts, bleeding into the cysts, or stretching of the fibrous tissue around the kidney (due to kidney enlargement).
Patients with autosomal dominant PKD may develop cysts in other areas of the body, especially the liver, pancreas, or blood vessels of the brain and heart. This may lead to complications, such as an aneurysm.
About one in 1,000 individuals is affected with autosomal dominant PKD.
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