Author/Authors :
ESEN, Bennur Bağcılar Eğitim ve Araştırma Hastanesi - Dahiliye Kliniği, Turkey , ATAY, Ahmet Engin Bağcılar Eğitim ve Araştırma Hastanesi - Dahiliye Kliniği, Turkey , GÖKMEN, Emel Bağcılar Eğitim ve Araştırma Hastanesi - Dahiliye Kliniği, Turkey , YILDIRIM, Süleyman Bağcılar Eğitim ve Araştırma Hastanesi - Dahiliye Kliniği, Turkey , ŞİT, Dede Bağcılar Eğitim ve Araştırma Hastanesi - Dahiliye Kliniği, Turkey
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
