유전자분석과 신장 조직검사를 통해 진단된 Fabry 병 2예
- Alternative Title
- Two Cases of Fabry Disease in Women with Proteinuria Diagnosed by Molecular Analysis of the alpha-Galactosidase A Gene and Kidney Biopsy
- 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.
- All Author(s)
- K. T. Yoon
; Y. H. Jang
; S. H. Lee
; J. H. Lee
; J. O. Yang
; E. Y. Lee
; S. Y. Hong
- Issued Date
- 2015
- Type
- Article
- Keyword
- Fabry disease; Proteinuria; alpha-galactosidase A
- Publisher
- 대한내과학회
- ISSN
- 1738-9364
- Citation Title
- 대한내과학회지
Korean Journal of Medidine
- Citation Volume
- 89
- Citation Number
- 5
- Citation Start Page
- 571
- Citation End Page
- 575
- Language(ISO)
- kor
- DOI
- 10.3904/kjm.2015.89.5.571
- URI
- http://schca-ir.schmc.ac.kr/handle/2022.oak/1051
- 공개 및 라이선스
-
- 파일 목록
-
Items in Repository are protected by copyright, with all rights reserved, unless otherwise indicated.