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Infantile Polycystic Kidney Disease

There are two forms of polycystic kidney disease. Autosomal dominant PKD is a genetic disorder that is present at birth but typically refrains from showing symptoms until adulthood. Autosomal recessive PKD is more rare, but it will usually display symptoms in infancy or early childhood. It is commonly referred to as infantile polycystic kidney disease.

  1. Autosomal Recessive PKD

    • Children born with autosomal recessive PKD, a genetic disorder, usually develop kidney failure before adulthood. Infants with a severe form may die almost immediately after birth due to respiratory problems. In some instances, the disease remains dormant until early adulthood.

    Symptoms

    • Children with autosomal recessive PKD typically are smaller than average and suffer from high blood pressure and urinary tract infections. In its publication "Polycystic Disease," the National Institute of Diabetes and Digestive and Kidney Diseases states, "The disease usually affects the liver and spleen, resulting in low blood cell counts, varicose veins, and hemorrhoids."

    Diagnosis

    • Excessively large kidneys or some other form of abnormality in a fetus or infant can be viewed with an ultrasound image, but kidney cysts in a baby are too tiny to be diagnosed with this method. Since autosomal recessive PKD causes liver scarring, an ultrasound of that organ may display hints of the disease.

    Treatment

    • Medicines, antibiotics, a nutritious diet and sometimes growth hormones are typical treatment in the early stages of infantile polycystic kidney disease. In extreme cases, kidney dialysis and/or kidney and liver transplantation may become necessary.

    Genetics

    • A mutation in the autosomal recessive PKD gene causes this disease. The possibility of a child having autosomal recessive PKD is 25 percent if both parents carry the recessive gene.

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