학술논문

Collapsing glomerulopathy associated lupus in a black female with homozygous APOL1 mutation.
Document Type
Article
Source
Lupus. Nov2012, Vol. 21 Issue 13, p1459-1462. 4p. 2 Color Photographs.
Subject
*GENETIC mutation
*AUTOIMMUNE diseases
*IMMUNOCYTOCHEMISTRY
*VASCULAR diseases
*KIDNEY diseases
Language
ISSN
0961-2033
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 [ABSTRACT FROM AUTHOR]