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
Related Articles
- EP ID EP344023
- DOI 10.19161/etd.344105
- Views 102
- Downloads 0
Recurrent episodes of hyperkalemia in a case with renal cell carcinoma
Hyperkalemia is one of the most urgent entities in clinical practice. The importance of hyperkalemia arises from its cardiovascular effects that can be mortal. Relapsing hyperkalemia is rare and usually associated with r...
Bilateral anterior shoulder dislocation: A case report and a review of the literature
Dislocation is more often encountered due to multilateral mobility of the shoulder joint, its anatomic characteristics, and its being more exposed to traumas. Shoulder dislocations are often anterior and unilateral; thou...
Cosmetic aspects in minimally invasive parathyroidectomy: Is minimally invasive approach superior?
Aim: The aim of this study was to determine whether minimally invasive parathyroid surgery has any positive impact on cosmesis. Materials and Methods: This case control study included 28 parathyroidectomized patients, wh...
Mesenteric avulsion in a blunt trauma
Mesenteric injuries are uncommon with blunt trauma, however these injuries must be considered in patients which are presented with blunt abdominal trauma. Preoperative diagnose is quite difficult in mesenteric injuries,a...
Human dignity in the end of life care
Dünya nüfusunun giderek yaşlanmasıyla bağlantılı olarak kronik hastalıklardan etkilenen insan sayısı artmakta, yaşam sonu bakım giderek önem kazanmaktadır (1). Yaşamın sonu aşaması, bir hastalığın ilerlemesini ya da bire...