Two Cases of Fabry Disease in Women with Proteinuria Diagnosed by Molecular Analysis of the alpha-Galactosidase A Gene and Kidney Biopsy.
10.3904/kjm.2015.89.5.571
- Author:
Kyu Tae YOON
1
;
Young Hwan JANG
;
Sun Hyo LEE
;
Ji Hye LEE
;
Jong Oh YANG
;
Eun Young LEE
;
Sae Yong HONG
Author Information
1. Department of Internal Medicine, Soonchunhyang University Cheonan Hospital, Soonchunhyang University College of Medicine, Cheonan, Korea. joyang@schmc.ac.kr
- Publication Type:Case Report
- Keywords:
Fabry disease;
Proteinuria;
alpha-galactosidase A
- MeSH:
alpha-Galactosidase*;
Biopsy*;
Enzyme Replacement Therapy;
Fabry Disease*;
Female;
Genes, vif;
Hematuria;
Humans;
Inclusion Bodies;
Kidney*;
Microscopy, Electron;
Middle Aged;
Mutation, Missense;
Outpatients;
Polymerase Chain Reaction;
Proteinuria*
- From:Korean Journal of Medicine
2015;89(5):571-575
- CountryRepublic 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.
