What Is Autosomal Recessive Polycystic Kidney Disease?

Polycystic kidney disease, or PKD, describes a group of genetic diseases that cause cysts to form and grow in the kidney. Genetic diseases are the result of changes, or mutations, in a person's DNA, and can be passed from parent to child. PKD cysts are filled with fluid. Over time, they expand, making the kidneys grow larger. This makes it hard for the kidneys to function normally and can lead to kidney failure.

The most common PKD by far is autosomal dominant polycystic kidney disease, or ADPKD. Much less common is autosomal recessive PKD (ARPKD). In the United States, for every 20,000 children born, approximately 1 child is born with ARPKD. ARPKD can only be passed on if both parents carry the abnormal gene. In families at risk, every child has a 25% chance of inheriting the disease.

ARPKD is found mainly in infants and children. Up to 3 out of every 10 cases of ARPKD end up in death shortly after birth or within the first year of life due to lung problems. In children who survive the first year, ARPKD can cause kidney failure and liver disease. About 1 in 3 children with ARPKD will develop kidney failure.

How does ARPKD affect the kidneys?

Every day, your body makes waste that goes into your blood. The kidneys work to take this waste out of your blood so it doesn’t build up and harm your body.

With ARPKD, cysts form in the kidneys. These cysts cause damage to the kidneys, making it harder for them to do their job.

The damage to the kidneys can become so great that the kidneys can no longer function. This is called kidney failure, and at this point dialysis or kidney transplants will be needed for survival.

About 1 in 3 children with ARPKD who survive the first year of life will develop kidney failure before they reach adulthood.

What are the symptoms of ARPKD?

ARPKD progresses much more rapidly than ADPKD, so signs and symptoms of the disease occur very early. In some cases of ARPKD, the first symptom is respiratory distress or difficulty breathing in newborns. Children with ARPKD may have the following signs and symptoms:

High blood pressure

Impaired growth

Blood in your urine

Urinary tract infections

Frequent urination

HOW IS ARPKD DIAGNOSED?

In some cases, ARPKD can be diagnosed in the fetus before birth. Doctors may use ultrasound findings, signs and symptoms, and family history from both parents to make a diagnosis.

HOW IS ARPKD TREATED?

There is no cure for ARPKD. Treatment of ARPKD consists of therapies to manage medical problems that are associated with ARPKD, such as high blood pressure, poor growth, lung problems, liver problems, electrolyte problems, and kidney failure.

THE FUTURE OF ARPKD

The outlook for ARPKD has improved over the years, most likely due to improvements in treating kidney failure and improvements in treating breathing problems in newborns.