Autosomal Recessive Polycystic Kidney Disease

According to the National Kidney Foundation, the types of genetic polycystic kidney disease (PKD) are autosomal dominant PKD and autosomal recessive PKD. The dominant version typically remains dormant until adulthood, but the recessive variety is a threat even to fetuses.

Autosomal Recessive PKD

• Children born with autosomal recessive PKD often develop kidney failure previous to adulthood. Infants born with the most severe forms may die almost immediately after birth due to respiratory problems. Others may not develop symptoms until later in childhood or even adulthood.

Dominant or Recessive

• A genetic disease occurs if one or both parents pass on genetic abnormalities. The result is dominant inheritance or recessive inheritance.

Inheritance Rate

• One parent with PKD will pass on a dominant gene with a 50 percent likelihood the child will inherit the disease. Autosomal recessive PKD occurs when both parents possess an abnormal gene, resulting in a 25 percent likelihood of a child developing PKD.

Diagnosis

• If infantile PKD is a concern, physicians will conduct ultrasound imaging of the fetus or newborn, looking for enlarged kidneys or other abnormalities. Since autosomal recessive PKD causes liver scarring, ultrasounds of that organ are helpful in diagnosis.

Prognosis

• The autosomal recessive form of PKD occurs in approximately 1 in 20,000 individuals. It affects males and females equally with a significant fatality rate in the first 30 days after birth. "If the child survives the newborn period, the chances of survival are good," reports The PKD Foundation. "For these children, approximately one-third will need dialysis or transplantation by the age of 10."