Signs of Polycystic Kidney Disease

Did you know that polycystic kidney disease (PKD) is one of the most common genetic disorders in the United States? At least 600,000 Americans have this progressive condition, and researchers believe more adults are living with undiagnosed PKD.     

Our board-certified urologists at Urological Associates in Charlottesville, Virginia, are committed to helping patients live the healthiest lives possible. Below, we’ve gathered the information you need to identify signs of PKD so you can seek help and get early treatment. 

What is polycystic kidney disease?

PKD is a genetic condition that causes your kidneys to develop non-cancerous cysts. As you grow more and more cysts, PKD begins to interfere with kidney function and can lead to kidney failure.    

There are two main types of PKD, but the most common is autosomal dominant PKD (ADPKD). When people talk about the disease they’re usually referring to this type since it affects over 90% of people with PKD. 

ADPKD is passed genetically from parent to child, but only one parent needs to be a PKD carrier for you to develop symptomatic PKD. Most people are diagnosed with ADPKD as adults (between ages 30-50), but some people develop symptoms as young children or during adolescence.   

Infantile or autosomal recessive PKD is very rare and begins in utero. It’s usually diagnosed before or soon after the baby is born and progresses rapidly, usually causing death within months of birth. Both parents must have the PKD gene for a baby to develop this form of the disease.  

What are the signs of PKD?

Most people don’t have significant signs or symptoms of autosomal dominant PKD until the disease progresses. In fact, sometimes the early symptoms are overlooked because people with early PKD have normal urine tests and blood work, making it difficult to diagnose until later stages.   

As researchers learn more about the disease, however, signs and symptoms that may indicate PKD are becoming better understood. These signs of PKD include:

PKD can also cause a feeling of fullness or heaviness in your abdomen or back and an increased girth as your kidneys enlarge. In addition, about one-quarter of PKD patients feel a fluttering or pounding in their chest due to a “floppy valve” in the heart associated with the disease. 

What should I do if I suspect PKD?

If you have any of the signs of autosomal dominant PKD listed above, it’s important to schedule a visit with a kidney specialist, like the team at Urological Associates. Diagnosing ADPKD involves imaging tests and genetic testing, and may include:

If you’re diagnosed with PKD, your Urological Associates provider helps ensure you get the best treatment possible. Not everyone with PKD develops end-stage kidney failure — some patients have mild PKD and live long lives.

Treatments for PKD depend on the severity of your case and what stage of the disease you’re in. There is no cure for PKD, so many therapies focus on managing symptoms, like side or back pain, UTIs, high blood pressure, and kidney failure. 

While a cure for PKD doesn’t exist yet, new strides are being made every day when it comes to kidney health. In 2018, the FDA approved a new medication that slows the progression of PKD. Your Urological Associates provider discusses whether you’re a candidate for this new treatment and answers any questions or concerns you may have about PKD.  

Don’t wait to schedule an appointment if you have any of the signs of kidney stones. Book an appointment with a team member at Urological Associates by calling 434-295-0184 or schedule online now. 

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