A Genetic Connection to Kidney Disease

How APOL1-mediated kidney disease can impact you, your kidneys and your family

A genetic condition that can cause kidney failure, APOL1-mediated kidney disease (AMKD) represents a group of kidney diseases associated with mutations (changes or variants) in the apolipoprotein L1 (APOL1) genes.

Typically, the APOL1 genes – of which every person has two, one from each parent – create proteins that play a role in immunity. However, some people are born with mutations in one or both genes, and having mutations in both can increase the risk of developing kidney disease and even kidney failure.

In honor of National AMKD Awareness Day on April 30, consider this information from the experts at the American Kidney Fund to better understand the disease and become APOL1 aware.

Understanding Risk Factors
Research shows Black people with kidney disease are more likely to develop kidney failure than any other racial or ethnic group. The reasons for these health disparities include social determinants of health, a higher burden of diabetes and high blood pressure in the Black community, barriers to health care access and genetics.

The APOL1 gene mutations evolved over the past 3,000-10,000 years in people who lived in western and central Africa and are associated with increased protection from a parasite carried by the tse tse fly that causes African sleeping sickness. While protecting from one disease, the mutation – if inherited in both APOL1 genes – is more likely to lead to kidney disease in those of certain African descent, including people who identify as Black, African American, Afro-Caribbean or Latina or Latino.

In fact, an estimated 13% of Black Americans have two APOL1 gene mutations, according to the American Kidney Fund. While not everyone who has two APOL1 mutations will get kidney disease, there is a 1 in 5 chance they will go on to develop AMKD.

Identifying Symptoms
If you have kidney damage, symptoms may not occur until your kidneys are close to failing. As kidney damage worsens, one or more of these symptoms may occur:

• Protein in urine
• Swelling in legs or weight gain
• Feeling weak or tired
• High blood pressure

Should these symptoms occur and you have a family history of kidney disease, talk to a doctor about getting tested for kidney disease, as testing is the only way to determine kidney function. AMKD can cause damage to parts of the kidney that filter blood or, in some cases, cause cells in the kidneys to die, which can lead to damage and scarring that may eventually lead to kidney failure.

Getting a Diagnosis
The only way to know if you have APOL1 gene mutations is to do genetic testing via a blood or saliva sample. Genetic testing may be considered if you have kidney disease and don’t know the cause or if you’re considering donating a kidney. Testing may also be considered if a family member is a carrier for the mutation. If you have questions about genetic testing, discuss your options with a doctor or ask for a referral to a genetic counselor.

Taking Steps to Prevent Kidney Disease
There are currently no treatments available for AMKD. However, there are steps you can take to protect your kidneys and promote general health. Work with your doctor to create a plan to prevent or delay the progression of kidney disease, which may include:

• Doctor visits to check how your kidneys are working through urine and blood tests
• Checking for and managing diabetes and high blood pressure
• A healthy eating plan, which may involve limiting things like sodium (salt)
• Taking prescription medications as directed
• Being active at least 30 minutes each day of the week
• Quitting smoking or using tobacco

If you have the APOL1 gene mutations, you may be able to take part in clinical trials. Trials could provide an opportunity for researchers to develop and test safe treatments for AMKD. Also speak with family members about having genetic testing done if you have the mutation as they may also have it.

Learn more and find additional resources at kidneyfund.org/APOL1aware.

 

Photo courtesy of Shutterstock

 

Sponsored by American Kidney Fund