A new genetic test finally brings understanding

Cracking the genetic code

Luzanne, a woman of West African origin, was diagnosed with kidney disease when she was 11 years old. When she first found out she had kidney problems her kidneys had already failed, and unfortunately the cause was unknown. She underwent a kidney transplant, which lasted for three years, but now she requires dialysis three times a week to cleanse her blood. Her mother was also diagnosed with kidney disease when Luzanne was six and also now needs dialysis to stay alive. 

Luzanne lived with the uncertainty of her condition's cause until recently, when her kidney team offered a genetic test. The test was for a genetic abnormality called APOL1 which is much more common in people of West African heritage, and which can cause kidney disease. Recent research by the kidney team at King’s College London has shown that nearly half of people previously thought to have kidney disease due to blood pressure damage or unknown causes actually have the APOL1 genetic abnormality.

Decades of uncertainty come to an end

Dr Kate Bramham from Synnovis supported Luzanne through the genetic testing. Receiving the result initially left Luzanne feeling depressed, but it has now helped her to understand why she had problems for so many years and that her disease was inherited and unavoidable. She had previously believed that she was responsible, that her actions had somehow damaged her kidneys. She is happy that the APOL1 result has allowed her sisters to be tested for their risk of kidney problems, and this genetic test can also help identify others at risk of kidney disease, potentially preventing them from suffering as she has. 

With special thanks to Luzanne, and also to Dr Kate Bramham, Consultant Nephrologist at King’s College Hospital, and Sammi Allouni, Principal Clinical Scientist, Liver Molecular Genetics, Synnovis.