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Infant Autosomal Dominant Polycystic Disease

Polycystic kidney disease is a genetic disorder passed from parents to infants. Whether the offending genes are dominant or recessive plays a role in determining if the disease presents itself in infancy or adulthood. 90 percent of all PKD cases are autosomal dominant.

  1. Infant PKD

    • Two forms of polycystic kidney disease (PKD) affect infants. Autosomal dominant PKD is a genetic disorder present at birth, but typically refrains from showing symptoms until adulthood. Autosomal recessive PKD is more rare, passes genetically, and will display symptoms in infancy or early childhood.

    Autosomal Dominant PKD

    • Children receive this form of the disease from their parents genetically through dominant inheritance, which means only one copy of the abnormal gene is needed to cause the disease. The majority of people with this form of the disease do not show symptoms until adulthood, but in rare instances, infants can be affected.

    Genetics

    • A parent with an autosomal recessive form of PKD passes the disease on to their children in only 25 percent of cases. However, the likelihood is higher with dominant genes; according to Dr. Alan Kliger, Clinical Professor of Medicine at Yale University's School of Medicine, "when a person with PKD marries an unaffected spouse, each child has a 50/50 chance of having PKD."

    Family Planning

    • Individuals with PKD who are contemplating having children may benefit from genetic counseling in order to stay up-to-date with the latest developments concerning inheritance issues.

    Treatment

    • Medicines, antibiotics, a nutritious diet, and growth hormones are typical treatment in the early stages of infant autosomal dominant polycystic disease. In extreme cases, kidney dialysis or kidney and liver transplantation is necessary.

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