Urological Disorders

Polycystic Kidney Disease (PKD)

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What is polycystic kidney disease (PKD)?

Polycystic kidney disease (PKD) is a genetic disorder characterized by the growth of numerous cysts filled with fluid in the kidneys. PKD cysts can slowly replace much of the mass of the kidneys, reducing kidney function and leading to kidney failure. PKD can also cause cysts in the liver and problems in other organs, such as the heart and blood vessels in the brain.

PKD is the fourth leading cause of kidney failure. According to the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), about one-half of people with autosomal dominant PKD progress to kidney failure, or end-stage renal disease (ESRD).

What are some of the types of PKD?

Below you will find the description of 2 major inherited forms of PKD and one non-inherited form:

autosomal dominant PKD (inherited)
This is the most common inherited form of polycystic kidney disease, accounting for about 90 percent of all PKD cases. "Autosomal dominant" means that if one parent has the disease, there is a 50 percent chance that the disease will pass to a child.

Usually, at least one parent must have the disease for a child to inherit it. However, in some rare cases, the cause of autosomal dominant PKD occurs spontaneously in the child soon after conception and, in these cases, the parents are not the source of this disease.
Symptoms usually develop between the ages of 30 and 40, but they can begin as early as childhood. Autosomal dominant PKD is often called "adult polycystic kidney disease." High blood pressure occurs early in the disease, often before cysts appear. The most common symptoms are pain in the back and the sides (between the ribs and hips), and headaches, but people with autosomal dominant PKD may also experience the following:
- urinary tract infections
- hematuria (blood in the urine)
- liver and pancreatic cysts
- abnormal heart valves
- high blood pressure
- kidney stones
- aneurysms (bulges in the walls of blood vessels) in the brain
- diverticulosis (small sacs on the colon)
Diagnosis of autosomal dominant PKD may include the use of imaging techniques to see cysts on the kidney. A diagnosis may also take into account any family history of autosomal dominant PKD, and/or the presence of cysts in other organs.

A physician will establish a treatment protocol for autosomal dominant PKD only after careful consideration of the patient's symptoms and medical profile. Treatment may include the following:
- pain medication
- surgery to shrink cysts and relieve pain
- treatment for high blood pressure
- treatment for urinary tract infections
- dialysis
- transplantation
- other

autosomal recessive PKD (inherited)
Autosomal recessive PKD is a rare, inherited form of polycystic kidney disease thought to be caused by a particular genetic flaw that is different from the genetic flaw that causes autosomal dominant PKD. Parents who do not have the disease can have a child with the disease if both parents carry the abnormal gene and both pass the gene to their baby.

Symptoms of autosomal recessive PKD can begin before birth. Children born with autosomal recessive PKD may develop kidney failure within a few years. Children with autosomal recessive PKD often experience:
- high blood pressure
- urinary tract infections
- frequent urination
The disease usually affects the liver, spleen, and pancreas, resulting in low blood-cell counts, varicose veins, and hemorrhoids.

Diagnosis often includes ultrasound imaging of the fetus or newborn baby to reveal cysts in the kidneys. Ultrasound examination of kidneys of relatives may also be helpful.

A physician will establish a treatment protocol for autosomal recessive PKD only after careful consideration of the patient's symptoms and medical profile. Treatment may include the following:
- medicines to control high blood pressure
- antibiotics for urinary tract infections
- growth hormones
- dialysis
- transplantation
- other

acquired cystic kidney disease, or ACKD (non-inherited)

Acquired cystic kidney disease (ACKD) may develop in association with long-term kidney problems, especially in patients who have kidney failure and who have been on dialysis for a long time. Therefore, it tends to occur in later years of life, and is an acquired, not inherited, form of PKD.

People with ACKD can have any underlying kidney disease, such as glomerulonephritis or kidney disease of diabetes. The cysts of ACKD may bleed and tumors, including kidney (renal) cancer, can develop in people with ACKD. Renal cancer is rare, but occurs at least twice as often in ACKD patients as in the general population.

Diagnosis of ACKD is often confirmed using ultrasound, CT scan, or MRI of the kidneys. A physician will establish a treatment protocol for ACKD only after careful consideration of the patient's symptoms and medical profile. Treatment may include surgery to stop bleeding of cysts, and to remove tumors or suspected tumors.

This page was last updated on: March 12, 2009.

For more information, call the University Physicians Consultation and Referral Service at 1-800-492-5538 (patients) or 1-800-373-4111 (physicians).