Two Cases of Fabry Disease in Women with Proteinuria Diagnosed by Molecular Analysis of the α-Galactosidase A Gene and Kidney Biopsy
| Autor: | Sae-Yong Hong, Ji-Hye Lee, Eun Young Lee, Sun Hyo Lee, Kyu Tae Yoon, Young Hwan Jang, Jong Oh Yang |
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| Rok vydání: | 2015 |
| Předmět: |
Pathology
medicine.medical_specialty Kidney Proteinuria medicine.diagnostic_test business.industry Globotriaosylceramide Enzyme replacement therapy urologic and male genital diseases medicine.disease Fabry disease Inclusion bodies chemistry.chemical_compound medicine.anatomical_structure chemistry Biopsy medicine Missense mutation medicine.symptom business |
| Zdroj: | The Korean Journal of Medicine. 89:571-575 |
| ISSN: | 2289-0769 1738-9364 |
| DOI: | 10.3904/kjm.2015.89.5.571 |
| Popis: | 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. (Korean J Med 2015;89:571-575) |
| Databáze: | OpenAIRE |
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