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Tests to Determine Polycystic Kidney Disease

Polycystic kidney disease is a genetic disorder that is characterized by cysts forming in the kidneys, ultimately crowding out normal tissue. Cysts can develop in other organs in the body as well. Diagnosis and treatment of symptoms is critical for delaying kidney failure.

  1. What Is Polycystic Kidney Disease?

    • Polycystic kidney disease (PKD) is characterized by the presence of fluid-filled cysts within the kidneys, and elsewhere in the body. According to the National Institute of Diabetes and Digestive and Kidney Diseases, approximately one-half of PKD sufferers will eventually experience kidney failure.

    Autosomal Dominant PKD Diagnosis

    • Autosomal dominant PKD, the most common form of this disease, may remain asymptomatic for many years. Diagnosis is typically confirmed through family history and kidney imaging via ultrasound, CT scan or MRI. Genetic testing can also reveal autosomal dominant PKD.

    Autosomal Recessive PKD Diagnosis

    • Autosomal recessive PKD is often referred to as infantile PKD because symptoms can occur before birth. Utlrasound imaging can detect enlarged, abnormally shaped kidneys while the baby is in utero. The imaging of the liver can also reveal abnormalities indicative of recessive PKD.

    Management

    • In both types of PKD, it is important to monitor the progression of the cysts, treat urinary tract infections with antibiotics and address high blood pressure through medication and diet.

    Prognosis

    • There is no cure for polycystic kidney disease. Management of symptoms is critical for delaying kidney failure. In the event of kidney failure, dialysis and kidney transplant may be considered.

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