Korean Journal of Medicine  2015;89(5):571-575

doi: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.

Kyu Tae YOON 1 ; Young Hwan JANG ; Sun Hyo LEE ; Ji Hye LEE ; Jong Oh YANG ; Eun Young LEE ; Sae Yong HONG

Affiliations

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Keywords

Fabry disease; Proteinuria; alpha-galactosidase A

Country

Republic of Korea

Language

Korean

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.