INVESTIGADORES
ROZENFELD Paula Adriana
congresos y reuniones científicas
Título:
DIAGNOSIS AND EVALUATION OF FABRY DISEASE PATIENTS IN ARGENTINA.
Autor/es:
ROZENFELD PA; CECI, R; REISIN R; EBNER R; NEUMANN P; MARTINEZ P; KISINOVSKI I; TARABUSO A; DOXASTAQUIS G
Lugar:
Cancún, Mexico
Reunión:
Congreso; VII Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal; 2009
Institución organizadora:
Sociedad Latinoamericana de Errores Innatos del Metabolismo y Pesquisa Neonatal
Resumen:
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Introduction: Fabry disease is an X- linked lysosomal disorder
due to deficient activity of the enzyme alfa galactosidase A (a-gal
A) which
leads to multisystemic storage of globotriaosylceramide with neurologic,
gastrointestinal, cardiac, renal, skin and ophtalmological involvement.
Aim:
To report the experience of detection and diagnosis of Fabry patients by
AADELFA in Argentina,
and to describe clinical manifestations of males and females.
Methods: a-gal
A enzymatic activity was assayed in dried blood filter paper. Genetic
testing was carried out by direct sequencing of 9 exons and intron-exon
boundaries, in blood samples in filter paper. Complete clinical evaluation of
signs and symptoms characteristic of Fabry disease was carried out by different
specialists of AADELFA.
Results: Seven families with Fabry
disease were diagnosed. The mutations of each of the index male cases were
detected, allowing the diagnosis of the female relatives. The most
frequent manifestations were: acroparesthesias, angiokeratomas, hypohidrosis, which
all were significantly more frequent in males than in females, and cornea
verticillata. Proteinuria and ventricular
hypertrophy were frequent findings both in males and females. The severity of
symptoms was also significantly higher in males. There was a delayed latency
between age at onset and age at diagnosis in our group: 14 years for men and 30
years for females.
Conclusions:
Fabry disease is an underdiagnosed and potentially fatal disorder that affects
both males and females. The availability of enzyme replacement therapy should
stimulate the identification of the signs and symptoms suggestive of this
disorder to allow earlier diagnosis and treatment
