Why the focus on kidney disease?
Dr. Egbuna: There is a disproportionate burden of the prevalence of kidney disease in patients of African ancestry compared to all other races. These observations have been documented for well over a hundred years. In fact, there are newspapers from the African American community going back to the 1860s talking about kidney disease. As kidney disease worsens, there is a rather significant increase in the cost of care, both in terms of follow-up medical costs, or even just the baseline medical costs. And it’s often much higher than this in the order of hundreds of thousands when patients end up on dialysis and have complications related to kidney failure.
Who’s at risk of developing what we call an APOL1-mediated kidney disease?
Dr. Egbuna: APOL1 is a gene that everybody has regardless of your race. But for those that lived several thousand years ago in sub-Saharan Africa, human African trypanosomiasis caused by a certain parasite that’s endemic in sub-Saharan Africa, was taking a toll on the population there. And through evolution, the genes changed and parasites became more resistant to the natural defenses that humans had against the infection. The gene mutation caused a disadvantage of sorts that manifests in the form of kidney disease. We inherit these genes from mom and dad. It has nothing to do with your diet or your lifestyle, but it’s just a risk meant to protect against the parasite if you by chance lived in West Africa. Since you carry it in your genes, even if you no longer live in a place that’s endemic for these infections, you’ve carried along the disadvantage that having those gene variants brings.
How would anyone know that they have kidney disease or Apol1 mediated?
Dr. Egbuna: Very simple blood tests, not expensive, and could be life-saving that estimate how well your kidneys are filtering your blood. There’s a very simple urine test that again, is cheap and could be life-saving. It could save you quite a lot in terms of complications related to kidney disease if it’s detected early to check for protein in the urine. Sometimes your doctor, depending on how severe your kidney disease is, may decide to do a biopsy so that he or she can get a better understanding of what’s driving or causing the disease.
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