APOL1 kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

Abstract

In people of African ancestry, apolipoprotein L1 gene (APOL1) variants have been identified as causing increased risk of progressive chronic kidney disease (CKD). In April of 2024, Kidney Disease: Improving Global Outcomes (KDIGO) convened a Controversies Conference on APOL1 Kidney Disease in Accra, Ghana. The goals of the conference were to review and discuss current evidence and controversies on APOL1 kidney disease, including naming, epidemiology, pathophysiology, APOL1 testing, treatment, and future research needs. Participants considered various terminologies for diseases related to APOL1 risk variants (such as APOL1-mediated or -induced kidney disease) and had highest support for using APOL1 kidney disease to describe kidney pathologies associated with the APOL1 G1 and G2 risk variants. Clinically, the term APOL1 kidney disease can be used on its own or as an overall category of kidney disease, with further specification added as needed (for example, APOL1 kidney disease, focal segmental glomerulosclerosis). Given that there are currently no established treatments for APOL1 kidney disease, and APOL1 genotype results are not by themselves actionable, there is insufficient evidence to guide recommendations for APOL1 population screening or routine testing. However, genotyping can be an important clinical consideration for individuals to inform risk stratification, frequency of follow-up, living kidney donation, as well as clinical trial eligibility. Key areas of need and strategies for future research were delineated and are reported here.

Keywords: chronic kidney disease; genetic testing; glomerulosclerosis.