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KMID : 0882420150890050571
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Korean Journal of Medicine
2015 Volume.89 No. 5 p.571 ~ p.575
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Two Cases of Fabry Disease in Women with Proteinuria Diagnosed by Molecular Analysis of the α-Galactosidase A Gene and Kidney Biopsy
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Yoon Kyu-Tae
Jang Young-Hwan
Lee Sun-Hyo
Yang Jong-Oh
Lee Eun-Young
Hong Se-Yong
Lee Ji-Hye
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Abstract
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Fabry disease is an X-linked lysosomal storage disorder caused by α-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 (α-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.
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KEYWORD
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Fabry disease, Proteinuria, α-galactosidase A
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