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

doi:10.1053/j.ajkd.2019.07.010

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

Journal article

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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 and Rossana Baracco

American journal of kidney diseases, Vol.75(2), pp.287-290

02/2020

DOI: 10.1053/j.ajkd.2019.07.010

PMCID: PMC7115721

PMID: 31601430

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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.

African ancestry

Apolipoprotein L1 (APOL1)

case report

collapsing glomerulopathy

focal segmental glomerulosclerosis (FSGS)

genetic risk

inflammatory state

interferon (IFN)

interferonopathy

kidney biopsy

kidney disease

risk allele

SAVI

Details

Title: Subtitle: APOL1-Associated Collapsing Focal Segmental Glomerulosclerosis in a Patient With Stimulator of Interferon Genes (STING)-Associated Vasculopathy With Onset in Infancy (SAVI)
Creators: Qassim Abid - Children's Hospital of Michigan
Alejandro Best Rocha - Arkana Laboratories
Christopher P. Larsen - Children's Hospital of Michigan
Grant Schulert - Cincinnati Children's Hospital Medical Center
Rebecca Marsh - University of Cincinnati Medical Center
Shima Yasin - Cincinnati Children's Hospital Medical Center
Cathy Patty-Resk - Children's Hospital of Michigan
Rudolph P. Valentini - Children's Hospital of Michigan
Matthew Adams - Children's Hospital of Michigan
Rossana Baracco - Children's Hospital of Michigan
Resource Type: Journal article
Publication Details: American journal of kidney diseases, Vol.75(2), pp.287-290
Publisher: Elsevier Inc
DOI: 10.1053/j.ajkd.2019.07.010
PMID: 31601430
PMCID: PMC7115721
ISSN: 0272-6386
eISSN: 1523-6838
Language: English
Date published: 02/2020
Academic Unit: Stead Family Department of Pediatrics
Record Identifier: 9984353839102771

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