Polycystic Kidney Disease

What is polycystic kidney disease (PKD)?

Polycystic kidney disease (PKD) is a rare genetic disorder. It causes many cysts filled with fluid to grow in the kidneys. PKD cysts can impair how the kidneys work. It can lead to kidney failure. PKD is the fourth leading cause of kidney failure. People with PKD can also have cysts in the liver and problems in other organs, such as the heart and blood vessels in the brain.

What are the different types of PKD?

There are 2 main forms of PKD that are inherited :

Autosomal dominant PKD

Autosomal dominant polycystic kidney disease (ADPKD) is the most common form of PKD. It accounts for about 90% of all PKD cases. Autosomal dominant means that if one parent has the disease, there is a 50% chance that the disease will pass to a child. Both males and females are equally affected.

ADPKD is often diagnosed in adulthood. It used to be called adult polycystic kidney disease. Usually, at least one parent must have the disease for a child to inherit it. In 10% of cases, there may be no family history of PKD. These cases are new mutations in a family. In very few cases, ADPKD occurs suddenly after conception. Parents would not be at increased risk to have more children with PKD. But people with PKD have a 50% chance of passing the gene on to their children.

Symptoms often start between age 30 and 40. But they can start in childhood. They may include:

Belly (abdominal) pain
Belly grows larger
Pale color to skin
Easy bruising
High blood pressure
Kidney stones
Brain aneurysms
Diverticulosis
Urinary tract infections
Blood in the urine
Liver and pancreatic cysts
Abnormal heart valves

ADPKD may occur with other conditions such as:

Tuberous sclerosis (a genetic syndrome involving seizures, intellectual disability, benign tumors, and skin lesions)
Liver disease
Severe eye problems

The symptoms of ADPKD may look like other health problems. Always check with your provider for a diagnosis.

Diagnosis of ADPKD may include:

Using imaging tests to find cysts on the kidney and other organs.
Reviewing family history of ADPKD. There are 3 different dominant genes that have been identified. They further subdivide ADPKD into PKD1, PKD2, and PKD3.

Your healthcare provider will figure out a treatment plan after careful consideration of symptoms and medical history. Treatment may include:

Pain medicine
Surgery to shrink cysts and ease pain
Treatment for high blood pressure
Treatment for urinary tract infections
Dialysis
Kidney transplantation

Autosomal recessive PKD

Autosomal recessive PKD (ARPKD) is a rare form of PKD. It is thought to be caused by a particular genetic flaw that is different from the genetic flaw that causes ADPKD. Parents who don't have the disease can have a child with the disease if both parents carry the abnormal gene and both pass the gene to their child. Carrier parents have a 25% chance with each pregnancy to have a child with this type of PKD. Males and females are equally affected.

ARPKD is sometimes found before birth using a fetal ultrasound. Symptoms can start before birth. In most cases, the earlier symptoms start, the more severe the outcome.

Children born with ARPKD may develop kidney failure within a few years. They often have:

High blood pressure
Urinary tract infections
Frequent urination

The disease also usually affects the liver, spleen, and pancreas. This results in low blood cell counts, varicose veins, and hemorrhoids.

The symptoms of ARPKD may look like other health problems. Always check with your child's healthcare provider for a diagnosis.

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

Your child's healthcare provider will figure out a treatment plan for after careful consideration of the child's symptoms and medical history. Treatment may include: