Polycystic kidney disease (PKD) is a genetic disorder
characterized by the growth of numerous cysts in the kidneys. The
kidneys are two organs, each about the size of a fist, located in
the upper part of a person's abdomen, toward the back. The kidneys
filter wastes and extra fluid from the blood to form urine. They
also regulate amounts of certain vital substances in the body.
When cysts form in the kidneys, they are filled with fluid. PKD
cysts can profoundly enlarge the kidneys while replacing much of
the normal structure, resulting in reduced kidney function and
leading to kidney failure.
When PKD causes kidneys to fail-which usually happens after many
years-the patient requires dialysis or kidney transplantation.
About one-half of people with the most common type of PKD progress
to kidney failure, also called end-stage renal disease (ESRD).
PKD can also cause cysts in the liver and problems in other
organs, such as blood vessels in the brain and heart. The number
of cysts as well as the complications they cause help doctors
distinguish PKD from the usually harmless "simple" cysts that
often form in the kidneys in later years of life.
What is autosomal
dominant PKD?
Autosomal dominant PKD is the
most common inherited disorder of the kidneys. The phrase "autosomal
dominant" means that if one parent has the disease, there is a 50
percent chance that the disease gene will pass to a child. In some
cases-perhaps 10 percent-autosomal dominant PKD occurs
spontaneously in patients. In these cases, neither of the parents
carries a copy of the disease gene.
Many people with autosomal dominant PKD live for several decades
without developing symptoms. For this reason, autosomal dominant
PKD is often called "adult polycystic kidney disease." Yet, in
some cases, cysts may form earlier in life and grow quickly,
causing symptoms in childhood.
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