Diagnosing Polycystic Kidney Disease

What is polycystic kidney disease?

Polycystic Kidney Disease, or PKD, is a genetic disorder that is characterized by clusters of cysts (fluid-filled sacs) in the kidneys. As the cysts become larger, they cause the kidneys to swell and eventually lose functionality. They may also spread to the liver or other areas in the body. High blood pressure and kidney failure are known complications of PKD. Some individuals may not realize that they have PKD for many years.

Diagnosing PKD

The diagnosis of PKD normally includes a health history, physical examination, and certain tests. Genetic testing may be conducted to confirm PKD. A health care professional that specializes in kidney disorders, or a nephrologist, determines the diagnosis.

• Health history. Detailed symptoms and family history will be gathered and evaluated. Questions will include if a parent has PKD.
• Physical examination. A health care professional may look for certain signs of PKD. This may include hypertension, palpable bilateral flank masses, nodular hepatomegaly, and other symptoms related to kidney failure.
• Ultrasound. The medical professional may order an ultrasound to look for cysts on the kidneys, liver or pancreas. This procedure involves a wand-like device being placed on the body. Sound waves emitted from the wand are reflected back to the transducer. This allows a computer to translate the sound waves into images.
• CT scan. A computerized tomography (CT) scan can check for kidney stones, cysts, or suspected tumors. During a CT scan, a person lies on a table which is guided into a machine shaped like a large circle. X-ray beams are projected through the body, which allows the medical professional to view cross-sections of the kidneys.
• MRI. Magnetic resonance imaging, or MRI, might be used to distinguish renal cell carcinoma from ordinary cysts. During an MRI, a person will lie down on a table inside a large cylinder. Magnetic fields and radio waves are used to create cross-sections of the kidneys.
• Genetic testing. A blood or saliva test may be ordered to confirm the presence of the gene mutation that causes PKD.