Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder that causes the growth of fluid-filled cysts that enlarge a fetus’ kidneys while still in the womb.* For a child to have this disorder, both parents must have the gene mutation. If only one parent carries the mutated gene, the child will not get the disorder, but it may be passed along to the next generation. 

The cysts from ADPKD cause kidney damage and liver damage—both of which affect the baby’s lung development and breathing. Approximately 30% of newborns with the disease die within hours or days of being born. A baby with ARPKD who survives the first few weeks of life has a good chance of surviving into adulthood and will likely require lifelong medical treatment. 

Learn more about what an ARPKD diagnosis means for your child and how early intervention can increase their chance of survival.

What are the signs of ARPKD?

Though some children with ARPKD don’t show symptoms until late childhood or adolescence, signs of the disease can appear while in the womb or during the first few months of a baby’s life. 

These signs include:

• Enlarged kidneys: This can be seen in fetuses during a sonogram. Enlarged kidneys place pressure on a child’s lungs, hindering both breathing and lung growth.
• Growth failure: Children with ARPKD are often smaller than average, as a result of their decreased kidney and lung function. 
• Low amniotic fluid level: Decreased kidney function can cause low levels of amniotic fluid in a mother’s womb. This can cause breathing difficulty in the fetus, too.

It’s critical for a woman at risk of passing PKD to her children to start prenatal care as soon as she learns she is pregnant.

Complications of ARPKD

Children with ARPKD who survive birth often experience lasting health issues that affect their lung, kidney, and liver functions—thus affecting their overall health.

• Breathing problems: The enlarged kidneys can interfere with proper prenatal lung development. This is the main reason why many babies with ARPKD don’t survive long after birth.  
• Kidney failure: Children with ARPKD frequently progress to kidney failure before reaching adulthood.
• Liver problems: Children with ARPKD develop congenital hepatic fibrosis, which is when excess fiber-like connective tissue spreads through the liver. This can lead to liver dysfunction.
• High blood pressure: Most children with ARPKD have high blood pressure. High blood pressure can cause further kidney damage and increase a child’s risk of heart disease and stroke. 

How is ARPKD diagnosed and treated?

ARPKD is diagnosed using ultrasound imaging, which can show kidney enlargement and liver scarring. There is no cure for ARPKD, so treatments are intended to address the resulting complications. 

• Enlarged kidney: Kidney removal and dialysis or kidney transplant will be necessary if the kidneys are large enough to interfere with breathing or are not functioning. 
• Kidney failure: Infants may not be eligible for kidney transplants. Peritoneal dialysis (PD) is the preferred method for treating children, though some doctors opt for hemodialysis (HD).
• Growth failure: Growth failure can be treated with nutritional therapy. You and your child’s doctor may consider human growth hormone treatment if their case is severe. 
• Breathing problems: If breathing is difficult and the kidneys are not going to be removed, artificial ventilation helps infants and toddlers breathe with the aid of a machine. 
• Liver problems: If a child experiences serious liver dysfunction from scarring, a combined liver and kidney transplant may be necessary.
• High blood pressure: High blood pressure can be controlled with medications, which can help delay kidney failure. 

The speed with which ARPKD progresses to kidney failure varies from child to child. The sooner a fetus is diagnosed, the sooner a healthcare team can intervene. Getting good prenatal care is crucial for increasing a child’s chances for survival.

*National Institute of Diabetes and Digestive and Kidney Diseases. (2021, Mar. 10). Autosomal Recessive Polycystic Kidney Disease. https://www.niddk.nih.gov/health-information/kidney-disease/polycystic-kidney-disease/autosomal-recessive-pkd