What Is APOL1-Mediated Kidney Disease (AMKD)?

APOL1-mediated kidney disease (AMKD) is a severe condition resulting from mutations in the APOL1 gene that harm specific kidney cells. This damage leads to a significant loss of protein from the blood, which is then discharged into the urine, negatively affecting the kidney's normal functioning. Current treatments for AMKD can not change a person’s genetics, but they can help manage and slow the progression of this disease. 

The APOL1 Gene

Genes are part of our DNA. Each person has two copies of each gene, one set from each parent. Genes tell your body which proteins to create. The APOL1 gene is an immunity gene that fights infection and keeps kidneys healthy. A mutation in the APOL1 gene can occur, and it is usually associated with a parasite that causes African sleeping sickness (also known as trypanosomiasis). People who carry a mutation in both sets of the APOL1 genes have a greater chance of developing kidney disease.

If you have an inherited mutation of the APOL1 gene:

• It can damage the parts of the kidney that filter blood.
• It can cause kidney cells to die, which can lead to scarring and kidney failure.

Who Develops this Mutation?

People who have origins in Western or Central Africa or have ancestors from these regions are more likely to have APOL1 gene mutations. This includes those who identify as Black, African American, Afro-Caribbean, Latina/Latino.

In the US, 13% of Black Americans carry two of the APOL1 gene mutations. Just because a person carries two sets of mutations does not mean that AMKD will develop. It is important to watch for signs and symptoms of kidney disease and start treatment early.

What are the Symptoms of AMKD?

The APOL1 gene mutation can cause kidney damage without any noticeable symptoms. Some patients are not diagnosed with kidney disease until their kidneys are failing. Regular checkups and monitoring are important in this disease. Here are a few key indicators to look for:

• Protein in your urine.
• Swelling in the legs or weight gain.
• Feeling weak or tired.
• High blood pressure.

If you are experiencing symptoms related to kidney disease or have a family history of the disease, it is important to discuss the possibility of being tested with your doctor. Genetic testing is the only way to determine if you carry the APOL1 mutation and to assess the current health of your kidneys. In case you require a kidney transplant, it is advisable to make sure your donor has also been tested for the APOL1 mutation.

Make Lifestyle Changes

Currently, there is no proper treatment available for AMKD. It is important to work with your doctor to implement changes to help manage the condition and slow its progression.

• Continually check your blood levels
• Have a healthy eating plan, which includes a low-sodium diet
• Treatment for AMKD may involve medications to control blood pressure, manage protein levels in the urine, and protect the kidneys. Take your medications as prescribed
• Be physically active for at least 30 minutes a day
• Quit smoking and using tobacco products

Conclusion

APOL1-mediated kidney disease (AMKD) is a type of kidney disease that progresses quickly and causes protein to leak into the urine. If you have a family history of kidney disease or are concerned about your risk, talk to your doctor. If you have been diagnosed with AMKD, get regular checkups and screenings for kidney function, and learn about healthy lifestyle habits to support kidney health.

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Sources: 

• American Kidney Fund
• National Kidney Foundation
• National Institute of Diabetes and Digestive and Kidney Diseases