A presentation at the NephCure 2025 Patient Summit and Youth Summit in New York City focused on the disproportionate impact of kidney disease on the Black population due to APOL1 gene variants. Clinicians can use the information to educate their patients and determine whether they should pursue genetic testing.
Disproportionate Effects of Kidney Disease on the Black Population
Black Americans are 4 times more likely to develop kidney disease than White Americans, and 35% of patients receiving dialysis in the United States are Black, even though Black people represent only 13% of the US population. This disparity is particularly pronounced in the southeastern states, also known as the Stroke Belt.
Several health conditions disproportionately affect Black individuals and contribute to their high burden of kidney disease:
- Hypertension
- Diabetes
- Lupus
- Glomerular diseases, such as focal segmental glomerulosclerosis (FSGS)
- Genetic conditions, such as polycystic kidney disease and APOL1-mediated kidney disease
APOL1-Mediated Kidney Disease in Individuals of Western and Central African Ancestry
During a presentation titled “Transforming Kidney Care: Empowerment Through Health Equity and APOL1 Awareness,” Daryl O. Crenshaw, MD, a nephrologist from Thomasville, Georgia, offered a detailed review of the significance of the APOL1 gene.
Everyone has a gene called APOL1, Dr. Crenshaw explained, but people with ancestors from western or central Africa are at high risk for 1 or 2 mutations of that gene. In fact, half of all Black Americans have at least 1 copy of this risk allele, and more than 1 in 10 have 2 copies.
When a person has 2 copies of the APOL1 risk allele, they have a 1 in 5 chance of developing kidney disease. This is termed APOL1-mediated kidney disease (AMKD), and it is present in 4 of 10 Black Americans currently receiving dialysis.
Dr. Crenshaw emphasized that AMKD can manifest in different ways, and it is often misattributed to hypertension-related kidney disease. It is also closely related to rapid progression of proteinuria, a hallmark of FSGS. This high-risk APOL1 genotype is present in 75% of Black patients with FSGS.
Ultimately, the condition scars the kidneys and impairs renal function.
Testing for Kidney Disease and APOL1 Risk Alleles
A definitive diagnosis of AMKD requires a genetic test that identifies the presence of 2 APOL1 risk variants. Genetic testing can help individuals and families understand their risk and take proactive steps to monitor their renal function.
Dr. Crenshaw recommends genetic testing for a broad swath of patients with African ancestry, which can refer to a diverse group of people. The risk variants may be present in people who self-identify as Black, African American, African, Afro-Caribbean, or Latino/Latina.
Testing may involve collection of blood or saliva via an oral swab. If testing reveals that a person has an APOL1 risk allele, they can be monitored for kidney disease over time with blood tests for serum creatinine, urine tests for protein, and renal ultrasonography. These patients can also be specifically educated about the clinical signs and symptoms of kidney disease.
Dr. Crenshaw also described clinical trials, such as one he is helping to conduct with Arkana Laboratories that offers free genetic testing to patients who meet the inclusion criteria.
To help educate your patients about AMKD or the clinical trial, consider referring them to a YouTube video from Dr. Crenshaw and Arkana Laboratories.
About the Event
The NephCure Patient Summit is designed for individuals affected by rare kidney diseases, including patients, caregivers, families, advocates, and healthcare partners. To learn more about NephCure or to participate in future NephCure events, visit nephcure.org.
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