Polycystic Kidney Disease

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Polycystic kidney disease (PKD) is a condition in which fluid-filled sacs grow within the kidneys. PKD prevents the kidneys from working properly and may lead to kidney failure.

There are three types of PKD:

  • Autosomal dominant PKD (most common form)
  • Autosomal recessive PKD
  • Acquired cystic kidney disease

Causes and Symptoms of PKD

Most cases of PKD are caused by an inherited genetic mutation.

In autosomal dominant PKD (the most common form), usually at least one parent also has a history of PKD. This form is most commonly diagnosed in adulthood, but symptoms may develop in childhood. Other conditions, such as tuberous sclerosis or liver disease, may also occur. Symptoms may include:

  • Belly swelling and pain
  • Pale skin
  • Easy bruising
  • High blood pressure
  • Urinary tract infections
  • Kidney stones
  • Brain aneurysms
  • Diverticulosis
  • Blood in the urine
  • Cysts of the liver and pancreas
  • Abnormal heart valves

Autosomal recessive PKD is also an inherited genetic condition, but a different genetic flaw is believed to be responsible. Children with this form of PKD often develop kidney failure in childhood. Cases of autosomal recessive PKD are classified into four different types, depending on the age that symptoms appear:

  • Perinatal form (symptoms appear at birth)
  • Neonatal form (symptoms appear within the first month of life)
  • Infantile form (symptoms appear between age 3 months and 6 months)
  • Juvenile form (symptoms appear after age 1 year)

Symptoms of autosomal recessive PKD include:

  • Urinary tract infections
  • High blood pressure
  • High urination frequency
  • Possible involvement of the liver, spleen or pancreas

Acquired cystic kidney disease is not inherited. It may develop after long-term kidney issues and at the same time as other cysts throughout the body, such as in the liver or pancreas.

Diagnosis and Treatment at UVA Health Children's

At UVA Health Children's, your child’s doctor may perform or recommend:

  • Imaging of the kidneys and other organs
  • Review of family history

Treatment will depend on your child’s symptoms and history. Treatment may include:

  • Management of pain
  • Surgery
  • Management of high blood pressure
  • Management of urinary tract infections
  • Hormonal therapy
  • Dialysis
  • Kidney transplantation