Collapsing glomerulopathy associated lupus in a black female with homozygous APOL1 mutation

Lupus. 2012 Nov;21(13):1459-62. doi: 10.1177/0961203312460114. Epub 2012 Sep 5.

Abstract

Collapsing glomerulopathy (CG), characterized by collapse of the glomerular capillary loops onto the mesangial stalks is rarely associated to systemic lupus erythematosus (SLE). Recently a genetic predisposition to HIV associated nephropathy (HIVAN) has been shown in Afro-Americans: MYH9 polymorhism in 2008 and then APOL1 variants (G1 and G2 alleles) in 2010 were shown to be strongly associated with HIVAN. We describe here for the first time the association of CG in a young Afro-American female with SLE having a homozygous mutation of APOL1. The clinical history, laboratory findings and immunofluorescence all confirmed a diagnosis of SLE. However, studies for factors associated with collapsing glomerulopathy in other situations were consistently negative. As this Afro-American patient developed a CG, we performed genotyping of APOL1. It was found that she is homozygotic for the G2 allele of APOL1. Despite.

Publication types

  • Case Reports

MeSH terms

  • Apolipoprotein L1
  • Apolipoproteins / genetics*
  • Biopsy
  • Black or African American / genetics*
  • Female
  • Fluorescent Antibody Technique
  • Genetic Predisposition to Disease
  • Homozygote*
  • Humans
  • Immunosuppressive Agents / therapeutic use
  • Kidney Glomerulus / pathology*
  • Lipoproteins, HDL / genetics*
  • Lupus Erythematosus, Systemic / ethnology
  • Lupus Erythematosus, Systemic / genetics*
  • Lupus Erythematosus, Systemic / pathology
  • Lupus Erythematosus, Systemic / therapy
  • Lupus Nephritis / ethnology
  • Lupus Nephritis / genetics*
  • Lupus Nephritis / pathology
  • Lupus Nephritis / therapy
  • Mutation*
  • Phenotype
  • Plasma Exchange
  • Predictive Value of Tests
  • Renal Dialysis
  • Risk Factors
  • Treatment Outcome
  • Young Adult

Substances

  • APOL1 protein, human
  • Apolipoprotein L1
  • Apolipoproteins
  • Immunosuppressive Agents
  • Lipoproteins, HDL