Autosomal recessive PKD is a rare, inherited form of polycystic kidney disease thought to be caused by a particular genetic flaw that is different from the genetic flaw that causes autosomal dominant PKD. Parents who do not 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 percent 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 prenatally (before birth) using a fetal ultrasound.
Symptoms of autosomal recessive PKD can begin before birth. In most cases, the earlier the onset, the more severe the outcome. There are four different types of autosomal recessive PKD, depending upon 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 3 and 6 months of age
- juvenile form - presents after 1 year of age
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
- frequent urination
The disease also usually affects the liver, spleen, and pancreas, resulting in low blood cell counts, varicose veins, and hemorrhoids.
The symptoms of autosomal recessive PKD may resemble other conditions or medical problems. Always consult your child's physician for a diagnosis.
Diagnosis often includes ultrasound imaging of the fetus or newborn to reveal cysts in the kidneys. Ultrasound examination of kidneys of relatives may also be helpful.
Your child's physician will establish a treatment protocol for autosomal recessive PKD only after careful consideration of the child's symptoms and medical profile. Treatment may include:
- treatment for high blood pressure
- treatment for urinary tract infections
- hormonal therapy
- kidney transplantation