Fabry disease with cardiovascular manifestation in a patient with end-stage renal disease.
Fabry disease is a rare X-linked hereditary storage disease caused by a mutation of the gene encoding alpha-galactosidase A. The clinical manifestation of the classical disease form is variable depending on the degree of individual organs involvement, including especially kidney, myocardium, central nervous system (CNS) and skin. We report a case of a 51-year-old man whose diagnostic manifestation was cardiac involvement leading to endomyocardial biopsy, which significantly contributed to the diagnosis. Although at that time he was already 9 years dependent on dialysis with terminal renal failure.
['Skopcová|Hana|H|', 'Dostálová|Gabriela|G|', 'Paleček|Tomáš|T|', 'Linhart|Aleš|A|', 'Honsová|Eva|E|']
D000795:Fabry Disease D006801:Humans D007668:Kidney D007676:Kidney Failure, Chronic D008297:Male D008875:Middle Aged D009154:Mutation D000519:alpha-Galactosidase
Fabry disease renal failure histopathology hypertrophic cardiomyopathy kidney failure