Polycystic Kidney Disease (PKD)

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What is autosomal recessive PKD?

Autosomal recessive PKD is caused by a mutation in the autosomal recessive PKD gene, called PKHD1. Other genes for the disease might exist but have not yet been discovered by scientists. We all carry two copies of every gene. Parents who do not have PKD can have a child with the disease if both parents carry one copy of the abnormal gene and both pass that gene copy to their baby. The chance of the child having autosomal recessive PKD when both parents carry the abnormal gene is 25 percent. If only one parent carries the abnormal gene, the baby cannot get autosomal recessive PKD but could ultimately pass the abnormal gene to his or her children.

The signs of autosomal recessive PKD frequently begin before birth, so it is often called "infantile PKD." Children born with autosomal recessive PKD often, but not always, develop kidney failure before reaching adulthood. Severity of the disease varies. Babies with the worst cases die hours or days after birth due to respiratory difficulties or respiratory failure.

Some people with autosomal recessive PKD do not develop symptoms until later in childhood or even adulthood. Liver scarring occurs in all patients with autosomal recessive PKD and tends to become more of a medical concern with increasing age.

What are the symptoms of autosomal recessive PKD?

Children with autosomal recessive PKD experience high blood pressure, urinary tract infections, and frequent urination. The disease usually affects the liver and spleen, resulting in low blood cell counts, varicose veins, and hemorrhoids. Because kidney function is crucial for early physical development, children with autosomal recessive PKD and decreased kidney function are usually smaller than average size. Recent studies suggest that growth problems may be a primary feature of autosomal recessive PKD.

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