Polycystic kidney disease (PKD) is a genetic disorder. In PKD, many fluid-filled cysts grow in the kidneys. These cysts can slowly replace much of the kidney tissue, so kidneys don’t work well. After many years, kidney failure can result. About half of people with the major type of PKD have kidney failure (also called end-stage renal disease, ESRD).
In the United States, about 500,000 people have PKD. It’s the fourth leading cause of kidney failure. No cure is known.
The two major inherited forms are autosomal dominant PKD and autosomal recessive PKD. The first is most common (about 90% of all cases) and initially manifests in people 30 to 40 years old. Autosomal recessive PKD is rare and usually affects young children.
Most people have no symptoms until adulthood. Then symptoms appear and slowly worsen. Early manifestations are frequent kidney infections and high blood pressure. Symptoms when cysts get larger are dull pain in the back and sides (between ribs and hips); fatigue; weakness; swelling (especially around ankles or eyes); shortness of breath; and itching skin.
Autosomal dominant PKD can also cause hematuria (blood in urine) and kidney stones. Cysts in the liver and pancreas, abnormal heart valves, kidney stones, brain aneurysms (bulges in blood vessel walls), and diverticulosis (small sacs on the colon) occur more frequently in people with PKD.
The health care provider diagnoses PKD by checking the family history for PKD and finding three or more kidney cysts with ultrasonography. Ultrasonography uses harmless sound waves to get pictures of the cysts.
The health care provider may suggest consultation with a nephrologist, a doctor who specializes in kidney diseases, because of increased risk of kidney failure with PKD.
Treatment focuses on treating high blood pressure and preventing complications such as kidney stones, urinary tract infections (UTIs), and renal failure.
Over-the-counter medicines such as aspirin and acetamino-phen help pain. Surgery to shrink cysts can relieve severe back and side pain. Antibiotics treat UTIs. Lifestyle changes (diet and exercise) and medicines help high blood pressure.
For ESRD, dialysis or transplantation may be used. In hemodialysis, blood goes through a machine that cleans it and is returned to the body. In peritoneal dialysis, fluid is put into the abdomen where it picks up wastes and is then removed. New kidneys (transplants) don’t develop cysts.
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