What Is APOL1 And How Does It Affect Kidney Disease?

What Is APOL1 And How Does It Affect Kidney Disease?

APOL1-Mediated Kidney Disease (AMKD) is a genetic disease that occurs when someone inherits certain variants of the apolipoprotein L1 (APOL1) gene. Mutations in the APOL1 gene have been linked to high blood pressure-related chronic kidney disease and kidney failure. Certain APOL1 variants have been linked with a higher risk of kidney disease in people of Western and Central African descent.

How Does APOL1 Cause Kidney Disease?

Everyone has two APOL1 genes. They make protein in your immune system that fights infection. But some people are born with a mutation in one or both APOL1 genes. If you inherit these variant genes, you have a greater chance of developing kidney disease.

The APOL1 gene evolved in people who lived in Western and Central Africa. “The mutation that evolved is associated with protection against a certain type of parasite that causes African sleeping sickness. As a result, you are more likely to have APOL1 gene mutations if you are from Western or Central Africa or have an ancestor who came from these regions.” This includes people who identify as: Black, African American, Afro-Caribbean and Latina/Latino.

What Are The Signs and Symptoms?

Many people who have AMKD do not have any symptoms until the kidney disease reaches advanced stages.

• Foamy urine or protein in your urine.

• The need to urinate more often.

• Itchy or dry skin.

• Fatigue and/or nausea.

• Loss of appetite, which can cause weight loss.

• Swelling in your legs or high blood pressure.

What Are Treatment Options?

“It is estimated that if you test positive for mutations in both copies of the APOL1 gene, there is a 1 in 5 chance that you will go on to develop kidney disease.” Currently, there are no treatment options for AMKD. But there are ways to help manage this disease and live a healthy lifestyle. Work closely with your doctor to create a plan to prevent or delay your kidney disease.

• Effectively manage your high blood pressure, high cholesterol or diabetes.

• Take all prescription medications as directed by your doctor.

• Have a healthy eating plan.

• Be active for at least 30 minutes each day.

• Quit smoking and tobacco products.

• Look for and participate (if possible) in clinical trials.

Conclusion

“People with two copies of an APOL1 risk variant have about a 15-20% chance of developing kidney disease in their lifetime. About 80% of people with two copies of an APOL1 risk variant do not get kidney disease. Therefore, not everyone with two copies of an APOL1 risk variant will get kidney disease. Also, people without APOL1 risk variants can still get other types of kidney disease. Kidney disease can be a result of multiple physical, environmental, and social factors.” 

To learn more about available clinical trials, click HERE.

Learn more about kidney disease HERE.