ADPKD Screening: Your Family and Your Health

Curated by Claudia Shannon / Research Scientist / ishonest

Overview

Autosomal dominant polycystic kidney disease (ADPKD) is an inheritable genetic condition. That means it may be passed from parent to child.

If you have a parent with ADPKD, you may have inherited a genetic mutation that causes the disease. Noticeable symptoms of the disease may not appear until later in life.

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If you have ADPKD, there’s a chance that any child you may have will also develop the condition.

Screening for ADPKD enables early diagnosis and treatment, which may reduce the risk of serious complications.

Read on to learn more about family screening for ADPKD.

How genetic testing works

If you have a known family history of ADPKD, your doctor may advise you to consider genetic testing. This testing can help you learn if you’ve inherited a genetic mutation that’s known to cause the disease.

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To conduct genetic testing for ADPKD, your doctor will refer you to a geneticist or genetic counselor.

They will ask you about your family medical history to learn if genetic testing may be appropriate. They can also help you learn about the potential benefits, risks, and costs of genetic testing.

If you decide to move forward with genetic testing, a healthcare professional will collect a sample of your blood or saliva. They’ll send this sample to a lab for genetic sequencing.

Your geneticist or genetic counselor can help you understand what your test results mean.

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If someone in your family is diagnosed with ADPKD, let your doctor know.

Ask them if you or any children you have should consider screening for the disease. They may recommend imaging tests like ultrasound (most common), CT or MRI, blood pressure tests, or urine tests to check for signs of the disease.

Your doctor may also refer you and your family members to a geneticist or genetic counselor. They can help you assess the chances that you or your children will develop the disease. They can also help you weigh the potential benefits, risks, and cost of genetic testing.

Costs of screening and testing

According to testing costs provided as part of an early study on the topic of ADPKD, the cost of genetic testing appears to range from $2,500 to $5,000.

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Talk to your healthcare provider for more information about the specific costs of the testing you might need.

Screening for brain aneurysm

ADPKD may cause a variety of complications, including brain aneurysms.

A brain aneurysm forms when a blood vessel in your brain bulges abnormally. If the aneurysm tears or ruptures, it may cause a potentially life threatening brain bleed.

If you have ADPKD, ask your doctor if you need to be screened for brain aneurysms. They’ll likely ask you about your personal and family medical history of headaches, aneurysms, brain bleeds, and stroke.

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Depending on your medical history and other risk factors, your doctor may advise you to be screened for aneurysms. Screening may be done with imaging tests such as magnetic resonance angiography (MRA) or CT scans.

Your doctor can also help you learn about the potential signs and symptoms of a brain aneurysm, as well as other potential complications of ADPKD, which may help you recognize complications if they develop.

The genetics of ADPKD

ADPKD is caused by mutations in the PKD1 or PKD2 gene. These genes give your body instructions for making proteins that support proper kidney development and function.

About 10 percent of ADPKD cases are caused by a spontaneous genetic mutation in someone with no family history of the disease. In the remaining 90 percent of cases, people with ADPKD inherited an abnormal copy of the PKD1 or PKD2 gene from a parent.

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Each person has two copies of the PKD1 and PKD2 genes, with one copy of each gene inherited from each parent.

A person only needs to inherit one abnormal copy of the PKD1 or PKD2 gene to develop ADPKD.

That means that if you have one parent with the disease, you have a 50 percent chance of inheriting a copy of the affected gene and developing ADPKD as well. If you have two parents with the disease, your risk of developing the condition is increased.

If you have ADPKD and your partner doesn’t, your children will have a 50 percent chance of inheriting the affected gene and developing the disease. If both you and your partner have ADPKD, your children’s chances of developing the disease increase.

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If you or your child has two copies of the affected gene, it may result in a more severe case of ADPKD.

When a mutated copy of the PKD2 gene causes ADPKD, it tends to cause a less severe case of the disease than when a mutation on the PKD1 gene causes the condition.

Early detection of ADPKD

ADPKD is a chronic disease that causes cysts to form in your kidneys.

You may not notice any symptoms until the cysts become numerous or large enough to cause pain, pressure, or other symptoms.

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By that point, the disease may already be causing kidney damage or other potentially serious complications.

Careful screening and testing may help you and your doctor detect and treat the disease before serious symptoms or complications develop.

If you have a family history of ADPKD, let your doctor know. They may refer you to a geneticist or genetic counselor.

After assessing your medical history, your doctor, geneticist, or genetic counselor may recommend one or more of the following:

  • genetic testing to check for genetic mutations that cause ADPKD
  • imaging tests to check for cysts in your kidneys
  • blood pressure monitoring to check for high blood pressure
  • urine tests to check for signs of kidney disease
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Effective screening may allow for early diagnosis and treatment of ADPKD, which may help prevent kidney failure or other complications.

Your doctor will likely recommend other types of ongoing monitoring tests to assess your overall health and look for signs that ADPKD may be progressing. For example, they may advise you to have routine blood tests to monitor the health of your kidneys.

The takeaway

Most cases of ADPKD develop in people who have inherited a genetic mutation from one of their parents. In turn, people with ADPKD may potentially pass the mutation gene on to their children.

If you have a family history of ADPKD, your doctor may recommend imaging tests, genetic testing, or both to test for the disease.

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If you have ADPKD, your doctor may also recommend screening your children for the condition.

Your doctor may also recommend routine screening for complications.

Talk to your doctor to learn more about screening and testing for ADPKD.

Read more on: adpkd


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