What is APOL1-mediated kidney disease?

APOL1-mediated kidney disease is a form of kidney diseases associated with changes that are known as “risk variants” in the APOL1 gene. These APOL1 risk variants occur in people of African ancestry who may self-identify as Black, African American, African, Afro Caribbean, Hispanic, or Latino. People with 2 APOL1 risk variants are at risk for APOL1-mediated kidney disease (AMKD). Approximately 13% of Black Americans have 2 APOL1 kidney risk variants.

What are the clinical signs of APOL1-mediated kidney disease?

AMKD causes injury to the filtering portion of the kidney known as the glomerulus. This injury leads to proteinuria (high levels of protein in your urine) and declining kidney function which leads to symptoms, including swelling of the legs and feet, fatigue, and changes in urination, among others. APOL1-mediated kidney disease commonly is associated with high blood pressure but is usually not associated with diabetes.

How is APOL1-mediated kidney disease diagnosed?

Your doctor may decide to use different tests to diagnose APOL1-mediated kidney disease depending on your symptoms. Blood and urine tests can be used to measure kidney function and for proteinuria. A kidney biopsy can sometimes help to gain a better picture of the cause of kidney injury. Genetic testing for the APOL1 kidney risk variants is required to know with certainty if your kidney disease is APOL1-mediated kidney disease.

Why should a person undergo genetic testing if APOL1-mediated kidney disease is suspected?

There are no currently approved treatments specific to APOL1-mediated kidney disease. Testing for APOL1 kidney risk variants is performed to further determine what is causing nondiabetic kidney disease in Black Americans before attributing it to other causes, like high blood pressure. The knowledge that APOL1 is the cause of disease may allow specific treatments and/or potential enrollment in clinical trials when they become available. Additionally, the diagnosis of APOL1-mediated kidney disease provides prognostic information and could be important in evaluating kidney donors with African ancestry.

Vertex Pharmaceuticals is sponsoring the No Cost to Patient APOL1 Genotyping Program to provide an Arkana Laboratories APOL1-risk variant test to eligible* patients.

*Eligibility requirements:

• African ancestry including those who self-identify as Black, African American, African, Afro Caribbean, Hispanic, or Latino
• Presence of either protein in urine or decreased kidney function (CKD Stages 1-4)
• Absence of diabetes
• Not currently on dialysis and no history of kidney transplant