Autosomal Recessive Polycystic Kidney Disease
Autosomal recessive polycystic kidney disease is a serious yet rare condition. Symptoms can include high blood pressure, urinary tract infections, and varicose veins. If a patient with autosomal recessive polycystic kidney disease has kidney failure, dialysis or transplantation will be used for treatment.
Polycystic kidney disease (PKD) is a genetic condition that causes the growth of numerous fluid-filled cysts in the kidneys. These cysts slowly replace much of the mass of the kidneys, reducing kidney function and leading to failure.
Autosomal recessive polycystic kidney disease is one type of polycystic kidney disease. While it is rare, it is often fatal.
Symptoms of autosomal recessive polycystic kidney disease can begin before birth, so it is often called "infantile PKD." Children born with the condition usually develop kidney failure within a few years. The severity of the disease varies.
Babies with the worst cases die hours or days after birth. Children with an infantile form of the disease may have sufficient kidney function for normal activities for a few years. People with juvenile polycystic kidney disease may live into their teens or twenties, and usually have liver problems as well.
Autosomal recessive polycystic kidney disease is estimated to occur in 1 in every 20,000 to 40,000 people.
The kidneys are two organs, each about the size of a fist, located toward the back of a person's upper abdomen (stomach). These organs filter wastes from the blood to form urine. They also regulate amounts of certain vital substances in the body.
When a person has autosomal recessive polycystic kidney disease, clusters of fluid-filled sacs (cysts) develop in the kidneys. The cysts grow out of nephrons, the tiny filtering units inside the kidneys. The cysts eventually separate from the nephrons and continue to enlarge. The kidneys enlarge along with the cysts (which can number in the thousands), while roughly retaining their kidney shape.
Symptoms of the disease occur because of these cysts and the damage they cause. Cysts may also develop in other organs, particularly the liver, spleen, and pancreas.