Autosomal recessive PKD is a rare, inherited form of polycystic kidney disease. It
is thought to be caused by a particular genetic flaw that is different from the genetic
flaw that causes autosomal dominant PKD. 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. Autosomal recessive
PKD is sometimes detected before birth using a fetal ultrasound.
Symptoms of autosomal recessive PKD can begin before birth. In most cases, the earlier
symptoms start, the more severe the outcome. There are 4 different types of autosomal
recessive PKD, depending on the child's age when symptoms become evident:
Perinatal form (present at birth)
Neonatal form (presents within the first month of life)
Infantile form (presents between age 3 months and 6 months)
Juvenile form (presents after age 1)
Children born with autosomal recessive PKD may develop kidney failure within a few
years and often experience the following:
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 autosomal recessive PKD may look like other conditions or medical
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. Ultrasound exam of kidneys of relatives may also be helpful.
Your child's healthcare provider will figure out a treatment plan for autosomal recessive
PKD after careful consideration of the child's symptoms and medical profile. Treatment