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

Qassim Abid, Alejandro Best Rocha, Christopher P. Larsen, Grant Schulert, Rebecca Marsh, Shima Yasin, Cathy Patty-Resk, Rudolph P. Valentini, Matthew Adams, Rossana Baracco

Research output: Contribution to journalArticlepeer-review

26 Scopus citations

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.

Original languageEnglish
Pages (from-to)287-290
Number of pages4
JournalAmerican Journal of Kidney Diseases
Volume75
Issue number2
DOIs
StatePublished - Feb 2020

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

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