Polycystic Kidney Diagnosis

Polycystic kidney disease (PKD) occurs when cysts form on the kidneys and interfere with normal kidney function. One in 500 people in the United States have this genetic disease, according to the PKD Foundation. Treatment is aimed at controlling the symptoms of the disease, although dialysis or a kidney transplant may be needed as the disease progresses.

Identification

• The kidneys are two bean-shaped organs located in the back of the upper abdomen. The kidneys remove waste and excess fluid from the blood and produce hormones that regulate blood pressure and red blood cell production. When you have PKD, fluid-filled cysts form on both kidneys. Over time, the cysts enlarge and press on the kidneys, causing scarring that interferes with normal kidney function.

Symptoms

• Symptoms of PKD may include kidney or urinary tract infections, frequent urination, bloody urine, high blood pressure, pain in the back or side, headache, enlarged abdomen, heart valve problems and kidney stones. As the disease progresses, cysts may form on the liver or pancreas and the kidneys may begin to fail. In the early stages of the disease, there may be no signs or symptoms of kidney problems.

Types

• Autosomal dominant PKD, formerly called adult polycystic kidney disease, is the most common form of the disease. People with this form of PKD usually develop symptoms when they are 30- to 40-years-old, according to the National Kidney and Urologic Diseases Information Clearinghouse (NKUDIC). If one of your parents has autosomal dominant PKD, you have a 50 percent chance of developing the disease. Autosomal recessive PKD is a rarer form of the disease that is often diagnosed soon after birth. When both parents carry the gene for this form of PKD, the risk of passing on the disease is 25 percent with each pregnancy.

Diagnosis

• PKD usually progresses very slowly. Routine blood and urine tests may not detect any abnormalities during the early stages. When the cysts become about a half inch long, they can be detected with imaging tests. Cysts can be detected using an ultrasound examination. During the examination, a wand that emits sound waves is passed over the abdomen, producing images of the kidneys and the cysts. Magnetic resonance imaging (MRI) and computerized tomography (CT) scans can also be used to obtain images of the kidneys. If at least two cysts are present in each kidney by the age of 30, and there is a family history of PKD, a doctor may be able to confirm autosomal dominant PKD, according to the NKUDIC.

Genetic Testing

• If a parent has PKD, your doctor may suggest that you undergo genetic testing to determine if you will also develop PKD. A blood sample is used to test for the gene mutations that cause the disease. While a blood test can indicate that you have the disease, the test can't predict the severity of the symptoms you may eventually experience. Genetic testing may be required if you are considering donating a kidney to a family member who has PKD.