Polycystic kidney disease
What is it
Polycystic kidney disease is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver.
Autosomal dominant PKD is the most common inherited form. Symptoms usually develop between the ages of 30 and 40, but they can begin earlier, even in childhood. About 90 percent of all PKD cases are autosomal dominant PKD.
Autosomal recessive PKD is a rare inherited form. Symptoms of autosomal recessive PKD begin in the earliest months of life, even in the womb.
How common is it
Polycystic kidney disease is one of the most common disorders caused by mutations in a single gene. It affects about 500,000 people in the United States. The autosomal dominant form of the disease is much more common than the autosomal recessive form. Autosomal dominant polycystic kidney disease affects 1 in 500-1,000 people, while the autosomal recessive type occurs in an estimated 1 in 20,000-40,000 people.
Where is it found
the PKD1 gene is located from base pair 2,088,707 to base pair 2,135,897 on chromosome 16.
- High blood pressure
- Back or side pain
- Increase in the size of your abdomen
- Blood in your urine
- Frequent urination
- Kidney stones
- Kidney failure
- Urinary tract or kidney infections
The goal of treatment is to control symptoms and prevent complications. High blood pressure may be hard to control, but controlling it is the most important part of treatment.
Treatment may include:
- Blood pressure medicines
- Low-salt diet
Any urinary tract infection should be treated quickly with antibiotics.
Cysts that are painful, infected, bleeding, or causing a blockage may need to be drained. There are usually too many cysts to make it practical to remove each cyst.
Surgery to remove one or both kidneys may be needed. Treatments for end-stage kidney disease may include dialysis or a kidney transplant.