This site is intended for U.S. healthcare professionals.
Content by Vertex Pharmaceuticals.

Diagnosis of AMKD requires a genetic test

A definitive diagnosis of APOL1-mediated kidney disease requires a genetic test for the presence of 2 APOL1 risk variants.1-4 There are different types of tests for APOL1 today, such as single-gene tests5 and panels that include APOL1.6 Only the presence of 2 APOL1 risk variants is a definitive diagnosis of AMKD.1-4
When testing, think broadly about African ancestry, which can refer to a diverse group of people. In the US, APOL1 risk variants may be present in people who self-identify as Black, African American, African, Afro-Caribbean, and/or Latino/Latina.7-11

IMPORTANCE OF AN AMKD DIAGNOSIS

While there are currently no approved treatment options for AMKD, a definitive diagnosis can better inform patient management in several ways:
    PROVIDE A CLEARER PROGNOSIS

    Patients with AMKD experience more rapid progression to kidney failure.12 You can help your patients understand their prognosis and consider providing more frequent monitoring given their elevated risk of kidney failure.1,12,13

    GUIDE TREATMENT DECISIONS

    Standard of care for CKD is the only available option to manage those diagnosed with AMKD. However, patients with AMKD still rapidly progress to dialysis 9 to 12 years earlier than those without.14,15

    In the absence of an approved treatment, an AMKD diagnosis can still help guide treatment decisions for your patients. For example:

    • Blood pressure control does not stop progression of AMKD, but literature demonstrates treating hypertension to goal provides a long-term survival benefit for patients with AMKD.16,17
    • AMKD patients with FSGS are more likely to be resistant to steroids, so an AMKD diagnosis may help patients avoid ineffective treatments.18,19
    OPEN UP CLINICAL TRIAL OPTIONS

    Knowing your patients’ APOL1 status may open up the possibility of clinical trial participation for those who are eligible.1 Be sure to visit www.ClinicalTrials.gov for a listing of all available clinical trials.

    EMPOWER PATIENTS AND FAMILIES WITH KNOWLEDGE

    An AMKD diagnosis may help reassure patients that they are not to blame for their disease and allow them to apply their knowledge of their disease into life decisions, such as family planning or lifestyle changes.1 Examples include:

    • Awareness of genetic disease in 1 family member may also enable other family members with kidney disease to seek their own APOL1 status.1
    • An AMKD diagnosis may encourage patients to implement positive lifestyle changes such as improved medication adherence, a healthier diet, weight loss, and smoking cessation.20

    However, results of 2 APOL1 variants must be communicated clearly and effectively to help patients feel empowered with knowledge. Otherwise, they may feel fear, anxiety, and confusion. Genetic counselors can provide professional advice to you and your patients.1

    There are multiple diagnostic companies that can administer tests and genetic counseling to help inform care for your patients. Test your kidney patients of African ancestry for APOL1 today.

     

    Interested in a
    no-cost APOL1 genetic test for eligible* patients?

     

     

    LEARN MORE

     

    *APOL1 testing may be available at no cost to patients who meet all of the following criteria: 1. African ancestry, 2. decline in kidney function (CKD stages 1-4), 3. absence of diabetes, 4. no history of dialysis or kidney transplantation.

    Geographic limitations may apply. Additional terms and conditions apply. This program is subject to change or discontinuation without notice.

    Sign Up for More

     

    Be the first to get updates on the latest news and developments from this site.

    SIGN UP NOW

    References: 1. Freedman BI, Burke W, Divers J, et al. Diagnosis, education, and care of patients with APOL1-associated nephropathy: a Delphi consensus and systematic review. J Am Soc Nephrol. 2021;32(7):1765-1778. doi:10.1681/ASN.2020101399 2. Freedman BI, Kopp JB, Sampson MG, Susztak K. APOL1 at ten years: progress and next steps. Kidney Int. 2021;99(6):1296-1302. doi:10.1016/j.kint.2021.03.013 3. Peralta CA, Bibbins-Domingo K, Vittinghoff E, et al. APOL1 genotype and race differences in incident albuminuria and renal function decline. J Am Soc Nephrol. 2016;27(3):887-893. doi:10.1681/ASN.2015020124 4. Rosenberg AZ, Kopp JB. Focal segmental glomerulosclerosis. Clin J Am Soc Nephrol. 2017;12(3):502-517. doi:10.2215/CJN.05960616 5. Franceschini N, Frick A, Kopp JB. Genetic testing in clinical settings. Am J Kidney Dis. 2018;72(4):569-581. doi:10.1053/j.ajkd.2018.02.351 6. Thomas CP, Mansilla MA, Sompallae R, et al. Screening of living kidney donors for genetic diseases using a comprehensive genetic testing strategy. Am J Transplant. 2017;17(2):401-410. doi:10.1111/ajt.13970 7. Duran CE, Ramírez A, Posada JG, et al. Prevalence of APOL1 risk variants in afro-descendant patients with chronic kidney disease in a Latin American country. Int J Nephrol. 2019;2019:7076326. doi:10.1155/2019/7076326 8. Friedman DJ, Pollak MR. APOL1 nephropathy: from genetics to clinical applications. Clin J Am Soc Nephrol. 2021;16(2):294-303. doi:10.2215/CJN.15161219 9. Riella C, Siemens TA, Wang M, et al. APOL1-associated kidney disease in Brazil. Kidney Int Rep. 2019;4(7):923-929. doi:10.1016/j.ekir.2019.03.006 10. Kopp JB, Winkler CA, Zhao X, et al. Clinical features and histology of apolipoprotein L1-associated nephropathy in the FSGS clinical trial. J Am Soc Nephrol. 2015;26(6):1443-1448. doi:10.1681/ASN.2013111242 11. Rosset S, Tzur S, Behar DM, Wasser WG, Skorecki K. The population genetics of chronic kidney disease: insights from the MYH9-APOL1 locus. Nat Rev Nephrol. 2011;7(6):313-326. doi:10.1038/nrneph.2011.52 12. Parsa A, Kao WHL, Xie D, et al. APOL1 risk variants, race, and progression of chronic kidney disease. N Engl J Med. 2013;369(23):2183-2196. doi:10.1056/NEJMoa1310345 13. Nguyen A, Suen SC, Lin E. APOL1 Genotype, Proteinuria, and the Risk of Kidney Failure: A Secondary Analysis of the AASK (African American Study of Kidney Disease and Hypertension) and CRIC (Chronic Renal Insufficiency Cohort) Studies. Kidney Med. 2022;4(12):100563. doi:10.1016/j.xkme.2022.100563 14. Elliott MD, Marasa M, Cocchi E, et al. Clinical and genetic characteristics of CKD patients with high-risk APOL1 genotypes. J Am Soc Nephrol. 2023;34(5):909-919. doi:10.1681/ASN.0000000000000094 15. Tzur S, Rosset S, Skorecki K, Wasser WG. APOL1 allelic variants are associated with lower age of dialysis initiation and thereby increased dialysis vintage in African and Hispanic Americans with non-diabetic end-stage kidney disease. Nephrol Dial Transplant. 2012;27(4):1498-1505. doi:10.1093/ndt/gfr796 16. Ku E, Lipkowitz MS, Appel LJ, et al. Strict blood pressure control associates with decreased mortality risk by APOL1 genotype. Kidney Int. 2017;91(2):443-450. doi:10.1016/j.kint.2016.09.033 17. Whelton PK, Carey RM, Aronow WS, et al. 2017 ACC/AHA/AAPA/ABC/ACPM/AGS/APhA/ASH/ASPC/NMA/PCNA Guideline for the Prevention, Detection, Evaluation, and Management of High Blood Pressure in Adults: Executive Summary: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. Circulation. 2018;138(17):e426-e483. doi:10.1161/CIR.0000000000000597 18. Gribouval O, Boyer O, Knebelmann B, et al. APOL1 risk genotype in European steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis patients of different African ancestries. Nephrol Dial Transplant. 2019;34(11):1885-1893. doi:10.1093/ndt/gfy176 19. Köttgen A, Cornec-Le Gall E, Halbritter J, et al. Genetics in chronic kidney disease: conclusions from a kidney disease: improving global outcomes (KDIGO) controversies conference. Kidney Int. 2022;101(6):1126-1141. doi:10.1016/j.kint.2022.03.019 20. Kopp JB, Winkler CA. Genetic Testing for APOL1 Genetic Variants in Clinical Practice. Clin J Am Soc Nephrol. 2020;15(1):126-128. doi:10.2215/CJN.01810219

    Back to top