Autosomal recessive PKD (ARPKD) is a rare form of PKD. It is thought to be caused by a particular genetic flaw that is different from the genetic flaw that causes ADPKD. Parents who don't have the disease can have a child with the disease if both parents carry the abnormal gene and both pass the gene to their child. Carrier parents have a 25% chance with each pregnancy to have a child with this type of PKD. Males and females are equally affected.
ARPKD is sometimes found before birth using a fetal ultrasound. Symptoms can start before birth. In most cases, the earlier symptoms start, the more severe the outcome.
Children born with ARPKD may develop kidney failure within a few years. They often have:
High blood pressure
Urinary tract infections
The disease also usually affects the liver, spleen, and pancreas. This results in low blood cell counts, varicose veins, and hemorrhoids.
The symptoms of ARPKD may look like other health problems. Always check with your child's healthcare provider for a diagnosis.
Diagnosis often includes ultrasound imaging of the fetus or newborn to reveal cysts in the kidneys. An ultrasound exam of kidneys of relatives may also be helpful.
Your child's healthcare provider will figure out a treatment plan for after careful consideration of the child's symptoms and medical history. Treatment may include: