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
Dans Coréen
| WPRIM
| ID: wpr-92383
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Patients en consultation externe
/
Protéinurie
/
Biopsie
/
Microscopie électronique
/
Corps d'inclusion
/
Réaction de polymérisation en chaîne
/
Gènes vif
/
Maladie de Fabry
/
Alpha-Galactosidase
/
Mutation faux-sens
Type d'étude:
Etude diagnostique
Limites du sujet:
Femelle
/
Humains
langue:
Coréen
Texte intégral:
Korean Journal of Medicine
Année:
2015
Type:
Article
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