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.

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.

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Bu Makaleye Atıf Yap

ESEN, B., ATAY, A. E., GÖKMEN, E., YILDIRIM, S., ŞİT, D. (2015). Son dönem böbrek yetmezliğinin nadir bir nedeni: Fabry hastalığı. Ege Tıp Dergisi, Cilt: 54 - Sayı: 1, 33–35. https://ajindex.com/articles/222728

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Kaynakça (10)

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