INVESTIGADORES
ROZENFELD paula Adriana
artículos
Título:
Immunofluorescence detection of Gb3 deposits in conjunctival biopsies of hemizygote and heterozygote patients with Fabry´s disease
Autor/es:
ROZENFELD, P.A; CROXATTO O; EBNER R; FOSSATI CA
Revista:
CLINICAL & EXPERIMENTAL OPHTHALMOLOGY.
Editorial:
WILEY-BLACKWELL PUBLISHING, INC
Referencias:
Año: 2006 vol. 34 p. 689 - 694
ISSN:
1442-6404
Resumen:
A
BSTRACT
Background:
Fabry disease is an X-linked disorder due to
a deficiency of
á
-galactosidase A and leads to the accumulation
of globotriaosylceramide (Gb3) in various cells. The
detection of Gb3 deposits may help in the diagnosis. To
date, no immunofluorescence-specific detection of Gb3 in
conjunctival biopsies has been reported. The aim of this
work was to detect Gb3 accumulation in conjunctival biopsies
from Fabry patients by immunofluorescence.
Methods:
Conjunctival biopsies taken from Fabry males and
females, before and after enzyme replacement therapy, and
normal controls were processed for immunofluorescence
with a monoclonal antibody specific for Gb3.
Results:
Positive green immunofluorescence was observed
in all biopsies from Fabry patients before enzyme replacement
therapy. After 6 months of treatment, immunofluorescence
in blood vessels was not observed.
Conclusions:
Immunofluorescence detection of Gb3 in
conjunctival biopsies may be a reliable method for the
diagnosis of Fabry disease in family members, and to evaluate
effectiveness of enzyme replacement therapy
