High incidence of autoantibodies in Fabry disease patients

Fabry disease (FD) is an X-linked disorder of glycosphingolipid catabolism that results from a deficiency of the lysosomal enzyme α-galactosidase A. This defect leads to the accumulation of its substrates, mainly globotriaosylceramide, in lysosomes of cells of different tissues. Different studies ha...

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Detalles Bibliográficos
Autores principales: Martinez, P., Aggio, M., Rozenfeld, Paula Adriana
Formato: Articulo
Lenguaje:Inglés
Publicado: 2007
Materias:
Ciencias Exactas
Medicina
Fabry disease
autoantibodies
Acceso en línea:http://sedici.unlp.edu.ar/handle/10915/133536
Aporte de:
SEDICI (UNLP) de Universidad Nacional de La Plata
id I19-R120-10915-133536
record_format dspace
institution Universidad Nacional de La Plata
institution_str I-19
repository_str R-120
collection SEDICI (UNLP)
language Inglés
topic Ciencias Exactas
Medicina
Fabry disease
autoantibodies
spellingShingle Ciencias Exactas
Medicina
Fabry disease
autoantibodies
Martinez, P.
Aggio, M.
Rozenfeld, Paula Adriana
High incidence of autoantibodies in Fabry disease patients
topic_facet Ciencias Exactas
Medicina
Fabry disease
autoantibodies
description Fabry disease (FD) is an X-linked disorder of glycosphingolipid catabolism that results from a deficiency of the lysosomal enzyme α-galactosidase A. This defect leads to the accumulation of its substrates, mainly globotriaosylceramide, in lysosomes of cells of different tissues. Different studies have shown the involvement of immunopathologies in different sphingolipidoses. The coexistence of FD and immune disorders such as systemic lupus erythematosus, rheumatoid arthritis and IgA nephropathy, has been described in the literature. The aim of this study was to evaluate the prevalence of a group of autoantibodies in a series of Argentine FD patients. Autoantibodies against extractable nuclear antigens (ENAs), double-stranded DNA, anticardiolipin and phosphatidylserine were assayed by ELISA. Lupus anticoagulants were also tested. Fifty-seven per cent of the samples showed reactivity with at least one autoantigen. Such reactivities were more frequent among males than among females. Antiphospholipid autoantibodies were detected in 45% of our patients. The high rate of thrombosis associated with FD could be related, at least in part, to the presence of antiphospholipid autoantibodies in Fabry patients. We found the presence of ENAs, which are a characteristic finding of rheumatological diseases, previous a frequent misdiagnosis of FD, in around 39% of the cases. The detection of a high level of autoantibodies must be correlated clinically to determine the existence of an underlying autoimmune disease. With the recent development of therapy, the life expectancy in FD will increase and autoimmune diseases might play an important role in the morbidity of FD.
format Articulo
Articulo
author Martinez, P.
Aggio, M.
Rozenfeld, Paula Adriana
author_facet Martinez, P.
Aggio, M.
Rozenfeld, Paula Adriana
author_sort Martinez, P.
title High incidence of autoantibodies in Fabry disease patients
title_short High incidence of autoantibodies in Fabry disease patients
title_full High incidence of autoantibodies in Fabry disease patients
title_fullStr High incidence of autoantibodies in Fabry disease patients
title_full_unstemmed High incidence of autoantibodies in Fabry disease patients
title_sort high incidence of autoantibodies in fabry disease patients
publishDate 2007
url http://sedici.unlp.edu.ar/handle/10915/133536
work_keys_str_mv AT martinezp highincidenceofautoantibodiesinfabrydiseasepatients
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AT rozenfeldpaulaadriana highincidenceofautoantibodiesinfabrydiseasepatients
bdutipo_str Repositorios
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