PKHD1-related autosomal recessive polycystic kidney disease

What is PKHD1-related Autosomal Recessive Polycystic Kidney Disease?

PKHD1-related autosomal recessive polycystic kidney disease (ARPKD) is an inherited disease in which clusters of fluid-filled sacs (cysts) form in the kidneys, often leading to kidney failure by the age of 10 and a reduced lifespan. According to studies, between 23 and 30% of infants with ARPKD die hours or days after birth due to breathing difficulties.

The majority of infants with ARPKD show enlarged, cyst-filled kidneys within the first month of life. These cysts will impair the kidneys’ ability to filter waste from the body. About 50% of infants with the disease will also have an enlarged liver. These anomalies are often detectable through ultrasound before the child is born. More than half of children will develop kidney failure by the age of 10. Without dialysis or transplantation, the disease is often fatal.

A minority of people with ARPKD do not show symptoms of the disease until later in childhood or early in adulthood, with liver disease being the dominant symptom. In these people, the kidney disease is often mild.

Extremely high blood pressure is common in people with ARPKD. They are also prone to urinary tract infections, frequent urination, low blood cell counts, pain in the back or the sides, varicose veins, and hemorrhoids. Many are also smaller than normal in stature.

How common is PKHD1-related Autosomal Recessive Polycystic Kidney Disease?

ARPKD affects 1 in every 20,000 to 40,000 infants. However, the disease may actually be more common since people with milder forms of the disease may not be diagnosed without genetic testing. About 1 in 70 U.S. adults is thought to be a carrier of ARPKD.

How is PKHD1-related Autosomal Recessive Polycystic Kidney Disease treated?

The initial concern with infants who have ARPKD is to protect their ability to breathe. Eating a nutritious diet can help the child’s growth, and in some cases, growth hormones are recommended. Infants and children may require feeding tubes in order to ensure proper growth.

If faced with kidney failure, people with ARPKD frequently undergo dialysis (a “cleansing” of the blood through a machine that remove wastes) or kidney transplants. If the liver is extremely damaged, transplantation of this organ may also be recommended. Some people with ARPKD must undergo dialysis or a kidney transplant while they are still in infancy.

In all people with ARPKD, medications can lower blood pressure and clear up urinary tract infections.

What is the prognosis for a person with PKHD1-related Autosomal Recessive Polycystic Kidney Disease?

Between 20 and 30% of infants with ARPKD die hours or days after birth due to breathing difficulties. Of those who survive infancy, about 85% survive their first year of life, 82% survive to age 10, and 73% live past the age of 15. In one study, 58% of individuals required dialysis or kidney transplantation by age 20.

As transplantation methods improve, it is expected that people with ARPKD will live longer lives.