Doctors used to call ADPKD the adult-onset polycystic kidney disease. This is because children who carry one of the genes that cause it usually do not feel ill. But ADPKD is an autosomal dominant disease. Unlike many other conditions, it only takes one defective copy of the gene to have ADPKD.
What that means is, for each child of a parent with the condition, the odds of APDKD are the same as the odds of a coin flip. Genetic testing can give you the answer from birth or even earlier. But there’s a lot that early genetics testing can’t tell you. This is because the symptoms of ADPKD can vary a lot, even within the same family. In either case, the worst symptoms don’t appear until much later in life.
“For children, the feeling is often much less intense,” says Charlotte Gimbel, MD, a pediatric nephrologist at the University Medical Center Freiburg in Germany. Adults have enlarged kidneys and can experience a lot of pain until eventually the kidneys fail and they need dialysis. It is a severe disease in adults. For children, she was said to be asymptomatic.
What are the early signs of ADPKD?
The idea that kids with ADHD don’t have any symptoms isn’t “really correct,” says Gimbel. Some children already have pain in the sides or back. They may have urinary tract infections (UTIs), kidney stones, or blood in the urine from cysts that have already begun to form in the kidneys. Gimbel says kids may have trouble staying dry through the night if their kidneys aren’t working as well as they should.
“More children than we thought develop high blood pressure or proteinuria” (extra protein in their urine is an early sign of kidney damage), she says, “It doesn’t feel like you’re sick, but you can treat it.”
As doctors have begun to recognize these early signs of ADPKD, they have begun to change the way they treat children who may have the condition. “It used to be ‘keep your fingers off’ and don’t bother them thinking about what you might have until they’re adults and can decide for themselves,” says Gimpel.
There is no treatment to stop cysts or future kidney problems. A drug has now been approved to treat ADPKD for adults, but there is still no way to treat ADPKD in children. But doctors can help in other ways.
“If you leave them completely alone, you’ll miss out on 20 percent of those who have a treatable condition,” Gimple says. You can’t really cure cystic disease, but treating high blood pressure is important to slow the progression [of kidney problems]. “
ADPKD affects other parts of the body, too. Affected adults can develop problems with the liver, pancreas, intestines, and heart. But, says Gimbel, there is no sign of these problems occurring early in life, and the babies don’t need additional screening.
Should you test your children?
You don’t need to be sure of a child’s ADPKD to treat early signs as they appear, says Gimpel.
Making sure you don’t miss out on those who could use early treatment is as simple as keeping an eye on your blood pressure. Gimbel says this is key given that feelings about testing children vary widely in families affected across generations with ADPKD.
“Parents feel different,” Gimple says. “Some would rather not know and want to put it in the back of their minds. Others really want to know. If the parents and the child really want to know before the child turns 18, genetic testing is fine.”
But there is no cure for ADPKD and no way to treat it in children. Experts believe early intervention may help, but data on this is lacking.
The consensus is: We do not recommend screening [kids for ADPKD] Because there is no treatment available to stop the progression, says Christian Hanna, MD, a pediatric nephrologist at the Mayo Clinic. There is no FDA approved treatment. There is no clear evidence for this discovery [of ADPKD] In asymptomatic children it will improve outcomes.”
Healthy living and mental health
Hanna says this does not mean that nothing can be done. Children with ADPKD or who are at high risk may benefit from early education about healthy living. It is good for them to avoid salty foods and to drink plenty of water. Exercise is beneficial, but if a child is already suffering from kidney pain or cysts, it is best to avoid contact sports such as soccer or lacrosse.
Don’t overlook the challenges to children’s mental health. Gimbel says the children may have seen their grandparents die of kidney problems. They may see a parent with ADPKD living in pain. Whether or not a child has early signs, families need to think about how they talk about ADPKD with their child. Parents should tell their children about the risks of ADPKD when they reach the age of 18, if not earlier.
She says: “When a child reaches adulthood without understanding their health risks, it is often difficult for them to change the way they think about the future.
“Talk to the kids in an age-appropriate way,” says Gimple. “Don’t burden them with too many facts. It’s good to start the conversation.” [early] About the uncertainty of not knowing if they have it or not and how it will progress.”
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