Two Cases of Fabry Disease in Women with Proteinuria Diagnosed by Molecular Analysis of the alpha-Galactosidase A Gene and Kidney Biopsy / 대한내과학회지
Korean Journal of Medicine
; : 571-575, 2015.
Article
em Ko
| WPRIM
| ID: wpr-92383
Biblioteca responsável:
WPRO
ABSTRACT
Fabry disease is an X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency, which results in the intracellular accumulation of globotriaosylceramide and leads to severe painful neuropathy with progressive renal, cardiovascular, and cerebrovascular dysfunction and early death. We report 52- and 55-year-old women with proteinuria and hematuria that were proven to be due to Fabry disease. A gene analysis using PCR direct sequencing confirmed a missense mutation of the GLA (alpha-galactosidase A) gene. Electron microscopy of a kidney biopsy showed lamella inclusion bodies, which are typical findings of Fabry disease. The patients were treated with enzyme replacement therapy as outpatients. They had a reduction in proteinuria and normal renal function.
Palavras-chave
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Pacientes Ambulatoriais
/
Proteinúria
/
Biópsia
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Microscopia Eletrônica
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Corpos de Inclusão
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Reação em Cadeia da Polimerase
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Genes vif
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Doença de Fabry
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Alfa-Galactosidase
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Mutação de Sentido Incorreto
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
Idioma:
Ko
Revista:
Korean Journal of Medicine
Ano de publicação:
2015
Tipo de documento:
Article