Polycystic Kidney Disease

Also known as: PKD.

What is polycystic kidney disease?

Cysts are abnormal sacs of fluid in the body that may be single or collect in clusters. PKD is a kidney disorder where numerous cysts enlarge in both kidneys reducing the amount of normal kidney tissue and thereby the kidney’s ability to function normally, leading to kidney failure.

PKD may present with cysts in other organs, particularly the liver, pancreas, spleen, ovaries, and large bowel. They can also involve the brain and heart.

What causes polycystic kidney disease?

Polycystic kidney disease is usually a genetic disorder. The commonest inherited form is where either parent has the abnormal gene and 50% of the children are affected (autosomal dominant).

Most of these cases are diagnosed in adulthood. This form sometimes occurs spontaneously from a new mutation. Inheritance by autosomal recessive gene (rare) requires each parent to pass on the abnormal gene to their children

 Acquired (non-inherited) cystic kidney disease-this is usually associated with long term kidney problems in children who have been on dialysis for some time.

What are the signs/symptoms of polycystic kidney disease?

Dominant PKD usually develops between the ages of 30-40 years, but may begin in childhood. The most common sign is high blood pressure.

Common symptoms include:

• back or side pain
• abdominal swelling from abdominal masses
• recurrent bladder and kidney infections
• kidney stones
• blood in the urine
• kidney failure.

When the heart is involved they affect the heart valves giving rise to murmurs. Brain involvement can lead to aneurysms (bulging of blood vessels) which can rupture and cause symptoms of a stroke. Other symptoms may occur with the presence of other organ involvement.

Signs/symptoms of recessive PKD may begin during intrauterine life before birth (diagnosed by fetal ultrasound) or occur in the first month of life (neonatal form), present between 3-6 months or after 1 year of age.

Children may present with:

• urinary tract infections
• swelling of the abdomen with/without difficulty breathing
• frequent voiding
• pain in the back or sides
• delayed growth and small size
• and a high blood pressure.

What are polycystic kidney disease care options? 

There is no cure for polycystic kidney disease. Treatments are focused on managing symptoms with medications, surgery to shrink the cysts, dialysis when the kidneys no longer function appropriately and kidney transplantation

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: June 09, 2023 11:59 AM