title: Collapsing glomerulopathy associated lupus in a black female with homozygous APOL1 mutation.
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.
authors.affiliation: Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service d'anatomopathologie, Paris, France. tomkofman@hotmail.com
authors.forename: T
authors.initials: T
authors.lastname: Kofman
authors.forename: C
authors.initials: C
authors.lastname: Narjoz
authors.forename: Q
authors.initials: Q
authors.lastname: Raimbourg
authors.forename: M-A
authors.initials: MA
authors.lastname: Loriot
authors.forename: A
authors.initials: A
authors.lastname: Karras
authors.forename: M
authors.initials: M
authors.lastname: Roland
authors.forename: G
authors.initials: G
authors.lastname: Hill
authors.forename: C
authors.initials: C
authors.lastname: Jacquot
authors.forename: D
authors.initials: D
authors.lastname: Nochy
authors.forename: E
authors.initials: E
authors.lastname: Thervet
mesh_terms: D001741:Black or African American / Q000235:genetics*; D000075944:Apolipoprotein L1; D001053:Apolipoproteins / Q000235:genetics*; D001706:Biopsy; D005260:Female; D005455:Fluorescent Antibody Technique; D020022:Genetic Predisposition to Disease; D006720:Homozygote; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D007678:Kidney Glomerulus / Q000473:pathology*; D008075:Lipoproteins, HDL / Q000235:genetics*; D008180:Lupus Erythematosus, Systemic / Q000208:ethnology / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D008181:Lupus Nephritis / Q000208:ethnology / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D009154:Mutation; D010641:Phenotype; D010951:Plasma Exchange; D011237:Predictive Value of Tests; D006435:Renal Dialysis; D012307:Risk Factors; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: C108666:APOL1 protein, human; D000075944:Apolipoprotein L1; D001053:Apolipoproteins; D007166:Immunosuppressive Agents; D008075:Lipoproteins, HDL