RMHC expert weighs in about preconception and prenatal testing as well as early childhood interventions for ADPKD families.

The kidneys are vital to your overall health. These bean shaped organs on either side of your spine filter waste from your blood, balance fluid levels and regulate blood pressure. Typically, each kidney is about the size of a fist. However, if you have been diagnosed with a condition called autosomal dominant polycystic kidney disease (ADPKD), your kidneys may enlarge—even up to the size of a football—affecting their ability to work properly.

ADPKD is a highly hereditary condition, which means it runs in families. So, if you have ADPKD, what should you consider for your children? 

What is ADPKD?

ADPKD is a congenital condition, meaning it is present since birth. People with ADPKD develop fluid-filled sacs (called cysts) on both kidneys. As more cysts grow, the kidneys become enlarged, and it is difficult for them to work correctly. However, as more is learned about ADPKD and its effects on the body, experts are finding ways to prevent or delay the symptoms and improve quality of life.

How is a child diagnosed with ADPKD?

ADPKD runs in families and is passed through genes; people with ADPKD have a 50 percent chance of passing on the gene to their children. “If you know you have ADPKD, there are many resources available to when you are planning a family, even before you conceive,” explains Melissa Cadnapaphornchai, MD, a pediatric nephrologist with Rocky Mountain Hospital for Children in Denver. “We provide preconception counseling and testing for you and your partner. We can perform tests during pregnancy and in early childhood as well. Early intervention for ADPKD often is helpful and can prevent issues before they ever begin.”

“Knowledge is key. If we are aware of the presence of the condition, we can help you create an intervention plan for your child to prevent symptoms and complications.”

What symptoms of ADPKD might occur?

Most children with ADPKD do not have any symptoms. ADPKD symptoms usually begin later in life—between the ages of 30 and 60. However, about a quarter of children with ADPKD will experience symptoms.

“Symptoms can include urinary tract infections, blood in the urine, pain in the sides or back, or kidney stones,” Dr. Cadnapaphornchai says. “If your child is having these symptoms, seek out care from an experienced pediatric nephrologist who can confirm if it is ADPKD and create an intervention plan to slow any damage and keep your child healthy.”

Dr. Cadnapaphornchai recommends keeping your child’s kidneys as healthy as possible by providing a diet low in salt and high in fruits and vegetables, staying active at 30 to 60 minutes at least five times a week and managing a healthy weight. Your pediatrician and nephrologist also will monitor your child’s blood pressure, which may be elevated by ADPKD.

“Some patients benefit from a drug that slows the rate of cyst growth,” Dr. Cadnapaphornchai explains. “We are studying this treatment, especially in children to determine how helpful it is in treating ADPKD.”

What is being done to advance ADPKD care?

While there is no cure for ADPKD, there is hope. Dr. Cadnapaphornchai is among an elite group of international researchers and experts who are continually learning more about the condition. They are finding new ways to delay kidney failure and manage the condition so patients can live happy, healthy lives. She is part of KDIGO (Kidney Disease Improving Global Outcomes) ADPKD workgroup, an international group of physicians, scientists and patients working to develop evidence-based guidelines for the best care of children and adults with ADPKD. KDIGO publishes several guidelines in various areas of nephrology, which are considered essential resources in the field. Dr. Cadnapaphornchai has published extensively in journals and books on the topic, especially around clinical trials studying new medications for children with ADPKD. 

To learn more about ADPKD and kidney health for children, visit Rocky Mountain Kids Kidneys (rockymountainkidskidneys.com)