RESUMEN
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.
Asunto(s)
Apolipoproteínas/genética , Negro o Afroamericano/genética , Homocigoto , Glomérulos Renales/patología , Lipoproteínas HDL/genética , Lupus Eritematoso Sistémico/genética , Nefritis Lúpica/genética , Mutación , Apolipoproteína L1 , Biopsia , Femenino , Técnica del Anticuerpo Fluorescente , Predisposición Genética a la Enfermedad , Humanos , Inmunosupresores/uso terapéutico , Lupus Eritematoso Sistémico/etnología , Lupus Eritematoso Sistémico/patología , Lupus Eritematoso Sistémico/terapia , Nefritis Lúpica/etnología , Nefritis Lúpica/patología , Nefritis Lúpica/terapia , Fenotipo , Intercambio Plasmático , Valor Predictivo de las Pruebas , Diálisis Renal , Factores de Riesgo , Resultado del Tratamiento , Adulto JovenRESUMEN
Although end-stage renal disease related to AA amyloidosis nephropathy is well characterized, there are limited data concerning patient and graft outcome after renal transplantation. We performed a multicentric retrospective survey to assess the graft and patient survival in 59 renal recipients with AA amyloidosis. The recurrence rate of AA amyloidosis nephropathy was estimated at 14%. The overall, 5- and 10-year patient survival was significantly lower for the AA amyloidosis patients than for a control group of 177 renal transplant recipients (p = 0.0001, 0.028 and 0.013, respectively). In contrast, we did not observe any statistical differences in the 5- and 10- year graft survival censored for death between two groups. AA amyloidosis-transplanted patients exhibited a high proportion of infectious complications after transplantation (73.2%). Causes of death included both acute cardiovascular events and fatal septic complications. Multivariate analysis demonstrated that the recurrence of AA amyloidosis on the graft (adjusted OR = 14.4, p = 0.01) and older recipient age (adjusted OR for a 1-year increase = 1.06, p = 0.03) were significantly associated with risk of death. Finally, patients with AA amyloidosis nephropathy are eligible for renal transplantation but require careful management of both cardiovascular and infectious complications to reduce the high risk of mortality.
