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
en Ko
| WPRIM
| ID: wpr-92383
Biblioteca responsable:
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.
Palabras clave
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Pacientes Ambulatorios
/
Proteinuria
/
Biopsia
/
Microscopía Electrónica
/
Cuerpos de Inclusión
/
Reacción en Cadena de la Polimerasa
/
Genes vif
/
Enfermedad de Fabry
/
Alfa-Galactosidasa
/
Mutación Missense
Tipo de estudio:
Diagnostic_studies
Límite:
Female
/
Humans
Idioma:
Ko
Revista:
Korean Journal of Medicine
Año:
2015
Tipo del documento:
Article