How Do Sickle Cell Disease and APOL1 Impact FSGS?
Sickle cell disease (SCD) and kidney conditions are some primary concerns for underserved patients who we aim to serve at Diverse Health Hub (DHH). Sickle cell disease is listed in some research as a cause of focal segmental glomerulosclerosis (FSGS), and APOL1 kidney disease treatments are under research by biotech and medical groups. Here’s a look at FSGS and the APOL1 gene and how they relate to sickle cell disease and other conditions.
What Is Focal Segmental Glomerulosclerosis (FSGS)?
Focal segmental glomerulosclerosis (FSGS), is a glomerular (or knot of blood vessels in the kidney) disease type. The condition causes scarring, or sclerosis, in the kidneys. Men are impacted slightly more frequently by FSGS in comparison to women, and it occurs more frequently in Black Americans or African Americans.
What Are the Causes of FSGS?
Research on FSGS is ongoing, but no single risk factor has been determined. There are different causal factors for FSGS. The scarring in FSGS may result from a disease, infection, or drug that impacts the whole body like:
Diabetes
Sickle cell disease
Lupus
HIV infection
APOL1 gene
Another glomerular disease before having FSGS
Those of African or West African descent may have the APOL1 gene and have no knowledge that they have the gene if they have not been tested for it. If you are of African descent or are Hispanic with possible recent African or Black ancestry, make sure to ask your doctor if you can be tested for the APOL1 gene.
APOL1 Genetic Variants
When found, the APOL1 genetic variant – along with other members of the APOL gene family – occurs on chromosome 22. Medical research has shown that sub-Saharan Africa was the origin of two APOL1 genetic variants several thousand years ago. African populations showed a rapid increase in these variants, since the APOL1 variants also provided protection against both the chronic and acute forms of African sleeping sickness. African sleeping sickness is an insect-borne infection by parasites. Protection by APOL1 also reaches beyond African sleeping sickness with clinical research showing that the APOL1 gene provides protection against other external threats like viruses. The APOL1 genotype is also often present in population groups with recent African or Black ancestry, such as Hispanics. Notably, individuals with two copies of APOL1 variants have a much lower risk of developing FSGS in their lifetime. In order to advance research efforts, it is essential for more patients with African, Black, or Hispanic ancestry to participate in clinical trials at a higher rate. With increased clinical trial participation will come a higher quantity and refinement of treatments for kidney-related medical conditions.
Protecting Patients Against Kidney Conditions and FSGS
Even with more research and government funding happening on the APOL1 gene mutation and focal segmental glomerulosclerosis, it is important to take action to protect patients. Some actions that can be taken to protect your health include:
Ask your doctor to test you for sickle cell trait and the APOL1 gene mutation if you have African, Black, or Hispanic ancestry in your background.
Inform your doctor if you have a family history of kidney conditions.
Ensure that you incorporate some walking or other exercise into your daily routine.
Consume more healthy whole foods in your diet like fruits, vegetables, lean proteins, whole grains, and plenty of water to maintain your health. Minimize consumption of high-salt, fried, and fast foods.
Participate in clinical trials if you have sickle cell trait, FSGS, or the APOL1 gene mutation.
Donate your time, monetary funds, or other things to credible organizations like the National Kidney Foundation toward the fight against kidney disease.
If you have an experience to share of when you experienced a health disparity when you raised a concern about testing to screen for potential kidney issues, contact us at DHH.
Kidney Disease and Nephrology Resources
Check out these other kidney disease resources to build your knowledge and to raise awareness about kidney-related medical conditions. As always, make sure to ask your doctor if you have any questions or concerns about your care or risk of kidney conditions.
Focal segmental glomerulosclerosis (FSGS), the APOL1 gene, and kidney conditions need increased awareness and research funding to help with early detection and better treatments. Stay tuned for more coverage about kidney-related medical conditions and genetic research.
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Sources
David J. Friedman and Martin R. Pollak. APOL1 Nephropathy: From Genetics to Clinical Applications. Clinical Journal of the American Society of Nephrology website. Accessed July 29, 2022. https://cjasn.asnjournals.org/content/16/2/294
Black Health Matters Talks FSGS With NephCure’s Lauren Lee. Black Health Matters website. Accessed July 29, 2022. https://blackhealthmatters.com/lauren-lee-talks-kidney-disease-breakthroughs
