Polycystic kidney disease (PKD) is a genetic disorder characterized by the growth of numerous cysts filled with fluid in the kidneys. Cysts are sacs of fluid that cause the kidney to enlarge and can hinder its filtering ability. Cysts also squeeze on blood vessels forcing the pressure to rise. There may be just a few cysts or many, and the cysts may range in size from a pinhead to the size of a grapefruit. When many cysts develop, the kidneys can grow to be the size of a football. The first symptom is often high blood pressure. Other symptoms include fatigue, frequent urination, blood in urine, headaches, kidney stones or urinary tract infections. Complications of the disease can be loss of kidney function, brain aneurysms, mitral valve prolapse in the heart, frequent infections, chronic flank or back pain, pancreas or liver cysts, enlarged heart, kidney stones, groin or abdominal hernias and diverticulitis of the colon.
Polycystic kidney disease comes in two hereditary forms: (1) autosomal dominant (ADPKD), the most common of all life-threatening genetic diseases; (2) autosomal recessive (ARPKD), a relatively rare disease that often causes significant mortality in the first month of life.
In the 1700s and 1800s, PKD was often given the label of Bright's disease. This term encompassed any of several kidney diseases marked by high concentrations of protein in the urine. Today, we know that many of the cases of Bright's disease were actually cases of PKD. The first documented case of PKD dates back to Stefan Bathory, the King of Poland, who lived from 1533 to 1588.