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
Title Of Article
A rare cause of end stage renal disease: Fabry disease
شماره ركورد
14896
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
From Page
33
NaturalLanguageKeyword
Fabry disease , hemodialysis , end stage renal failure
JournalTitle
Ege Journal Of Medicine
To Page
35
JournalTitle
Ege Journal Of Medicine
Link To Document