How We’re Fighting PKD in Children
Since 2006, nearly $2 million has been invested in ARPKD-related research, support, and education. These investments also benefit children with ADPKD and congenital hepatic fibrosis (CHF), a disease closely associated with ARPKD.
In August 2023, we hosted the first-ever Externally-Led Patient-Focused Drug Development Meeting focused on ARPKD which united doctors, researchers, industry partners, the Federal Drug Administration (FDA),and ARPKD families to elevate the urgent needs of the ARPKD community.
ARPKD families emphasized the struggles of living with ARPKD and how important it is to have treatments. After the meeting, a Voice of the Patient report was created to inform future FDA decisions and oversight of ARPKD drug development. This landmark report will impact the future of ARPKD treatments and, in turn, improve the lives of people withARPKD and their families who currently have no treatment to manage the disease.
ADPKD and children
Autosomal dominant polycystic kidney disease (ADPKD) can be diagnosed at a very young age or even before birth. Diagnostic tests performed during pregnancy should be done in conjunction with medical counseling so the test results can be completely understood. For example, knowing your baby could have (or does have) an ADPKD gene does not determine the course or severity of the disease.
There are two different groups of children with ADPKD—those diagnosed before birth (or in their first year of life) with large cystic kidneys and those who are diagnosed after their first year.
Children who are diagnosed in the first year of life have some special characteristics:
- One parent may have severe ADPKD.
- Some severely impacted infants may have a related syndrome which causes a genetic disease, tuberous sclerosis complex, which can lead to kidney cysts. Many won’t have a family history of ADPKD or tuberous sclerosis complex.
- Most are diagnosed in-utero with large kidney cysts.
- Most develop high blood pressure (hypertension) in childhood which should be monitored and treated by a doctor/pediatric nephrologist.
- Some patients could develop end-stage renal disease (ESRD) by their teenage years.
Children who are diagnosed after one year of age:
- Usually, one of the parents is known to be affected with typical ADPKD.
- Often have kidney cysts without kidney enlargement.
These cases most likely represent incidental findings due to widespread use of ultrasounds and improved resolution of the scans to detect smaller sized cysts.
Almost all children who are diagnosed after the first year of life will have perfectly normal kidney function throughout childhood.
ARPKD in children
Receiving an ARPKD diagnosis can feel overwhelming and frightening, especially knowing that it can sometimes be life-threatening in the first month. However, there’s hope: nearly 80% of children with ARPKD survive the newborn stage.
While about one-third of these children may need a transplant or dialysis within the first 10 years, there’s no need to be pessimistic.
The outlook for ARPKD has improved significantly—it’s no longer considered a fatal condition. Just 20 years ago, only half the children with this disease lived to see their 10th birthday. Today, more than 90% of children who survive the newborn period reach their 20th birthday, and half of them still haven’t needed dialysis or a transplant.
The PKD Foundation does not offer medical advice. The information shared on this website is not intended to be a substitute for professional medical advice, diagnosis, or treatment. We strongly recommend that your care and treatment decisions be made in consultation with your healthcare professional team.