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
in Korean
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Outpatients
/
Proteinuria
/
Biopsy
/
Microscopy, Electron
/
Inclusion Bodies
/
Polymerase Chain Reaction
/
Genes, vif
/
Fabry Disease
/
Alpha-Galactosidase
/
Mutation, Missense
Type of study:
Diagnostic study
Limits:
Female
/
Humans
Language:
Korean
Journal:
Korean Journal of Medicine
Year:
2015
Type:
Article
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