Risk Factors for Adult Polycystic Kidney Disease and Who’s Most at Risk

Autosomal dominant polycystic kidney disease (ADPKD) is a genetic condition and the fourth leading cause of kidney failure. Although kidney disease often has no symptoms in the early stages, the dangers of this disease are real. Some people are at higher risk for developing kidney failure as a result.

Let's take a closer look at ADPKD, the risk factors for developing complications (like kidney failure), and what you can do to promote kidney health.

What is adult polycystic kidney disease?

Adult polycystic kidney disease, or autosomal dominant polycystic kidney disease (ADPKD), is a condition that causes cysts to form in the kidneys. These cysts grow larger over time, changing the shape and function of the kidney. Eventually these cysts can cause the kidney to grow so large that it fails. This can lead to the need for dialysis and kidney transplant.

What are the risk factors for polycystic kidney disease?

Since polycystic kidney disease is a genetic condition, the biggest risk factor is having a family history of ADPKD. The genetic mutation that causes ADPKD runs in families. It's passed directly from a parent to a child. If you have one parent with the genetic mutation, you have a 50% chance of developing ADPKD.

In rare cases, someone with adult polycystic kidney disease has no family history of the condition. This happens when the genetic mutation for ADPKD occurs on its own. This happens in about 10% of people.

About half of all people with ADPKD will go on to develop kidney failure by the age of 60. Risk factors that may make this more likely include:

• Having high blood pressure

• Being a younger age when diagnosed with ADPKD

• Having protein in the urine

• Being male

How do you diagnose adult polycystic kidney disease?

ADPKD is usually diagnosed based on your medical history and the presence of multiple cysts in both kidneys. Healthcare professionals usually do this with an ultrasound. But sometimes they use other imaging tests. CT scan and MRI tests may also provide a more in-depth view of the kidneys.

To help make the diagnosis, a healthcare professional will likely use other tests, like bloodwork and a urinalysis. These can give clues to your kidney health and function. After making the diagnosis, you may regularly have these tests ordered to follow your progress.

Since adult polycystic kidney disease is hereditary, genetic testing is helpful. This type of testing can help figure out if you have the gene mutation before you even develop symptoms. You may need genetic testing if you have a family history of polycystic kidney disease.

Is polycystic kidney disease more common in Black adults?

Most studies show that Black people aren't more likely to develop adult polycystic kidney disease. This condition tends to affect all groups of people. Though rates of ADPKD may not be higher in Black people, the risk of kidney failure is much higher.

In general, Black people are four times more likely to have kidney failure than white people. This includes kidney failure from kidney diseases of all types. With adult polycystic kidney disease, Black people do tend to have worse outcomes. In fact, Black people with ADPKD are more likely to have kidney failure at much younger ages.

What are the symptoms of adult polycystic kidney disease in Black people?

Many people with ADPKD don't have symptoms until at least age 30 - after the cysts have grown very large. The symptoms of adult polycystic kidney disease can range from mild to severe.

Symptoms may include:

• Decreased urine production

• High blood pressure readings

• Frequent urinary tract or kidney infections

• Blood in the urine

• Episodes of sharp belly pain from kidney stones

• Pain in the belly or flank area due to cysts

Those with the gene mutation for ADPKD also tend to have other conditions that may develop outside the kidney. And these conditions can lead to a wide range of other symptoms. Conditions include:

• Dilated blood vessels in the brain and heart

• Digestive problems (like diverticulosis and changes in bowel movements)

• Cysts in the pancreas or liver

• Heart-muscle thickening

• Heart-valve changes

• Hernia in the abdominal wall

Why are Black people more likely to have kidney failure?

It's not clear why Black people with ADPKD tend to progress to kidney failure more quickly than other people. This may be due to many factors, including:

• Higher rates of diseases that worsen kidney function (like high blood pressure and diabetes)

• Lack of access to healthcare

• Delayed referrals to specialists

• Advanced disease at the time of diagnosis

Even after being diagnosed with kidney failure due to ADPKD, Black people tend to have worse outcomes. The evidence shows that Black people have:

• Lower rates of kidney transplantation

• Longer wait times on the kidney transplant list

• Increased risk of delayed kidney function after kidney transplant

How can you reduce the risk of adult polycystic kidney disease?

The gene mutation for adult polycystic kidney disease is passed directly from a parent. If you have the gene mutation, there's not much you can do to prevent the disease. But the good news is there are things you can do to prevent the disease from getting worse.

There's an FDA-approved treatment for ADPKD to maintain kidney health, called Jynarque (tolvaptan). This medication helps to block cysts from forming in the kidneys. This prevents worsening kidney function in people with ADPKD who are at high risk.

Keeping your kidneys healthy can keep them working longer. Fortunately, there are steps you can take to promote kidney health:

• Make sure your blood pressure is under control

• Get enough water each day

• Avoid cigarette smoking

• Start a regular exercise routine

• Keep blood glucose levels in the normal range

• Limit your salt intake

Frequently asked questions