What is APOL1-Mediated Kidney Disease (AMKD)? 10 facts to help you Be APOL1 Aware

Today is the first ever national APOL1-Mediated Kidney Disease (AMKD) Awareness Day! The American Kidney Fund (AKF) launched this new awareness day to help people learn about AMKD and how it could impact their kidney health.

To help you Be APOL1 Aware and learn if you may be at risk, here are 10 facts about AMKD.

1. AMKD is a genetic condition associated with variants (mutations) in the apolipoprotein L1 (APOL1) gene. Everyone has two copies of the APOL1 gene, but having mutations in both copies has been linked to an increased risk for rapidly progressing kidney disease.
2. People of western and central African descent are at an increased risk of a mutation in one or both APOL1 genes. This includes people who are Black, African American, Afro-Caribbean, and/or Latina/Latino.
3. The APOL1 gene creates proteins that play a role in immunity, our body's built-in system to fight disease. Hundreds of years ago, the mutation associated with AMKD evolved as a way to protect the person from a parasite (carried by the tse tse fly) that causes African sleeping sickness. Today, we now know that while protecting from one disease, the APOL1 gene mutations also increase the risk for significant kidney damage in some people.
4. The exact number of people who have AMKD is not known, as researchers only discovered the role of the APOL1 gene mutations in kidney disease in 2010. However, it is estimated that 13% of (or 1 in 8) Black Americans have two APOL1 gene mutations.
5. If you have the two APOL1 gene mutations, you are not guaranteed to develop kidney disease. If you have both mutations, you are at a higher risk of developing kidney disease (a 1 in 5 chance), but it typically develops after you also encounter an environmental trigger — like an inflammation or an infection like COVID-19 — that acts as a "second hit" and increases the damage to your kidneys. You may not know what your "second hit" was, though, so knowing if you have the genetic mutations can help you more closely monitor your kidney health and make lifestyle choices now to help prevent you from developing kidney disease. 
6. Kidney disease caused by AMKD progresses much more rapidly than non-AMKD. If you have AMKD, you are more likely to develop kidney disease early in your life and your kidney disease is more likely to progress to kidney failure and faster than it would if you did not have AMKD. Fortunately, you can talk to your doctor or a genetic counselor about taking a genetic test to find out if you have the mutations. This can help you determine if you need to begin interventions to prevent or slow down the progression of kidney disease.
7. AMKD can cause damage to parts of the kidney that filter blood or, in some cases, causes cells in the kidney to die. This can lead to damage and scarring that can eventually lead to kidney failure.
8. It is estimated that 54% to 73% of cases of focal segmental glomerulosclerosis (FSGS) and 17% of lupus nephritis cases (and 25% of lupus nephritis cases with kidney failure) are the result of AMKD.
9. There is no cure for AMKD, but if you know you have the disease, you may be able to participate in clinical trials that are working on developing treatments for AMKD. 
10. The only way to know if your kidney disease is the result of APOL1 mutations is to do genetic testing. If you are interested in doing a genetic test, talk to your doctor or a genetic counselor. Some genetic testing companies may offer low-cost or no-cost options for those eligible (typically people with non-diabetic kidney disease or with a family history of kidney disease who are of certain African descent). Find more information about genetic testing in AKF's genetic counseling guide, including what to expect, the benefits of genetic testing, the companies that offer tests and how to prepare. 

You can find out more about AMKD on our website. 

You can also find out how you can help others Be APOL1 Aware through the AMKD Awareness Day site: KidneyFund.org/APOL1Aware.

AMKD Awareness Day is sponsored by Vertex Pharmaceuticals Incorporated.