A rare cause of end stage renal disease: Fabry disease
Journal Title: Ege Tıp Dergisi - Year 2015, Vol 54, Issue 1
Abstract
Fabry disease is the second most common lysosomal storage disease after Gaucher disease. Although there are many systemic symptoms, generally diagnosis of Fabry disease is delayed. Having a family history of Fabry disease with symptoms is important for diagnosis. In this report, a 23-year-old male patient diagnosed as Farby disease by genetic analysis is presented who had mitral insufficiency, cardiomyopathy and end stage renal failure requiring hemodialysis.
Authors and Affiliations
Bennur ESEN, Ahmet Engin ATAY, Emel GÖKMEN, Süleyman YILDIRIM, Dede ŞİT
Keywords
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- EP ID EP344023
- DOI 10.19161/etd.344105
- Views 112
- Downloads 0
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