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Symptoms
During the early stages of PKD, there are often no symptoms. Some people are never diagnosed because their symptoms are mild. Most symptoms appear in middle age.
Frequently, the first symptom is pain in the back or flank area. Other signs of PKD include:
- High blood pressure
- Blood in the urine
- Urinary tract infection
- Kidney stones
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Additional, less common symptoms may include:
- Nail abnormalities
- Painful menstruation
- Joint pain
- Drowsiness
If you experience any of these symptoms do not assume it is due to PKD. These symptoms may be caused by other, less serious health conditions. If you experience any one of them, see your physician.
Diagnosis
Your doctor will ask about your symptoms and medical history, and perform a physical exam. When diagnosing PKD, your doctor may begin by looking for signs of the disease, including high blood pressure, enlarged or tender kidneys, enlarged liver, and protein or blood in the urine.
An abdominal ultrasound is usually the test of first choice to detect the presence of cysts on the kidneys. If cysts are too small to be detected by ultrasound and the diagnosis is still in question, an abdominal CT scan or MRI scan may be performed.
If the diagnosis still remains unconfirmed, additional tests may be ordered, including:
- Gene linkage study—a blood test that tests the DNA of the patient and family members with and without PKD
- Direct DNA sequencing—blood sample of patient’s DNA to look for presence of the PKD gene
Ten to forty percent of patients with PKD also have an aneurysm (weakness in the wall of a blood vessel) in the brain. If you are diagnosed with PKD and there is a family history of a brain aneurysm, your doctor may recommend an arteriogram to detect the presence of an aneurysm.