Bennur ESEN, Ahmet Engin ATAY, Emel GÖKMEN, Süleyman YILDIRIM, DEDE ŞİT

Son dönem böbrek yetmezliğinin nadir bir nedeni: Fabry hastalığı

Fabry hastalığı, Gaucher h astalığından sonra, ikinci en sık lizozomal depo hastalığıdır. Sistemik olarak pek çok bulgu vermesine rağmen teşhisi genellikle gecikmektedir. Benzer hastalık bulguları olan aile öyküsü , tanı için önemlidir. Bu yaz ıda, mitral yetmezlliği ve kardiyomyopati mevcut olup son dönem böbrek yetmezliği nedeniyle hemodiyaliz uygulanan ve genetik analiz sonucu Fabry h astalığı tanısı konulan 23 yaşında erkek hasta sunulmaktadır.

A rare cause of end stage renal disease: Fabry disease

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.

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