Fabry disease: A treatable lysosomal storage disorder.
Artigo
em Inglês
| IMSEAR
| ID: sea-139032
ABSTRACT
Fabry disease is a lysosomal storage disease with an X-linked inheritance pattern, which presents in childhood as acroparaesthesias. Its non-specific symptoms often lead to delays in the diagnosis. We report the case of a 13-year-old boy who presented with typical acroparaesthesia of Fabry disease, his younger brother had gastrointestinal manifestations of the disease and their mother’s symptoms suggested that she is a carrier. Enzyme replacement therapy helped in ameliorating the patient’s symptoms and preventing complications such as renal failure, stroke and cardiovascular disorders.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Proteínas Recombinantes
/
Humanos
/
Masculino
/
Fatores de Risco
/
Adolescente
/
Doenças por Armazenamento dos Lisossomos
/
Doença de Fabry
/
Alfa-Galactosidase
/
Isoenzimas
Tipo de estudo:
Estudo de etiologia
/
Fatores de risco
Idioma:
Inglês
Ano de publicação:
2009
Tipo de documento:
Artigo
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