Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
, 75 (2), 287-290

APOL1-Associated Collapsing Focal Segmental Glomerulosclerosis in a Patient With Stimulator of Interferon Genes (STING)-Associated Vasculopathy With Onset in Infancy (SAVI)

Affiliations

APOL1-Associated Collapsing Focal Segmental Glomerulosclerosis in a Patient With Stimulator of Interferon Genes (STING)-Associated Vasculopathy With Onset in Infancy (SAVI)

Qassim Abid et al. Am J Kidney Dis.

Abstract

Apolipoprotein L1 (APOL1) risk variants G1 and G2 are known to result in risk for kidney disease in patients of African ancestry. APOL1-associated nephropathy typically occurs in association with certain environmental factors or systemic diseases. As such, there has been increasing evidence of the role of interferon (IFN) pathways in the pathogenesis of APOL1-associated collapsing glomerulopathy in patients with human immunodeficiency virus (HIV) infection and systemic lupus erythematosus, 2 conditions that are associated with high IFN levels. Collapsing glomerulopathy has also been described in patients receiving exogenous IFN therapy administered for various medical conditions. We describe a patient with a genetic condition that results in an increased IFN state, stimulator of IFN genes (STING)-associated vasculopathy with onset in infancy (SAVI), who developed collapsing glomerulopathy during a flare of his disease. The patient was found to have APOL1 G1 and G2 risk variants. This case supports the role of IFN in inducing APOL1-associated collapsing glomerulopathy.

Keywords: African ancestry; Apolipoprotein L1 (APOL1); SAVI; case report; collapsing glomerulopathy; focal segmental glomerulosclerosis (FSGS); genetic risk; inflammatory state; interferon (IFN); interferonopathy; kidney biopsy; kidney disease; risk allele.

Figures

Figure 1
Figure 1
Collapsing glomerulopathy. (A, B) Collapse of the glomerular tuft associated with prominent epithelial cell hyperplasia and hypertrophy (A: periodic acid–Schiff; B: Jones methenamine silver; A, B: original magnification, ×400). (C, D) Tubulointerstitial changes with microcystic tubular dilatation, moderate interstitial fibrosis and tubular atrophy, and mild mixed interstitial inflammation (C: periodic acid–Schiff; original magnification, ×100; D: Masson trichrome; original magnification, ×20). (E, F) Uniform glomerular basement membranes with segmental epithelial foot-process effacement. At high magnification, endothelial tubuloreticular inclusions are seen (arrow) (E, unstained; original magnification, ×8,000; F, unstained; original magnification, ×18,000).

Similar articles

See all similar articles

References

    1. Genovese G., Friedman D.J., Ross M.D. Association of trypanolytic ApoL1 variants with kidney disease in African Americans. Science. 2010;329(5993):841–845. - PMC - PubMed
    1. Tzur S., Rosset S., Shemer R. Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene. Hum Genet. 2010;128(3):345–350. - PMC - PubMed
    1. Larsen C.P., Beggs M.L., Saeed M. Histopathologic findings associated with APOL1 risk variants in chronic kidney disease. Mod Pathol. 2014;28(1):95–102. - PubMed
    1. Larsen C.P., Beggs M.L., Saeed M., Walker P.D. Apolipoprotein L1 risk variants associate with systemic lupus erythematosus-associated collapsing glomerulopathy. J Am Soc Nephrol. 2013;24(5):722–725. - PMC - PubMed
    1. Kopp J.B., Nelson G.W., Sampath K. APOL1 genetic variants in focal segmental glomerulosclerosis and HIV-associated nephropathy. J Am Soc Nephrol. 2011;22(11):2129–2137. - PMC - PubMed

LinkOut - more resources

Feedback