Korean J Med.
2015 Nov;89(5):571-575. 10.3904/kjm.2015.89.5.571.
Two Cases of Fabry Disease in Women with Proteinuria Diagnosed by Molecular Analysis of the alpha-Galactosidase A Gene and Kidney Biopsy
- Affiliations
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- 1Department of Internal Medicine, Soonchunhyang University Cheonan Hospital, Soonchunhyang University College of Medicine, Cheonan, Korea. joyang@schmc.ac.kr
- 2Department of Pathology, Soonchunhyang University Cheonan Hospital, Soonchunhyang University College of Medicine, Cheonan, Korea.
- KMID: 2268960
- DOI: http://doi.org/10.3904/kjm.2015.89.5.571
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.
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