Authors: Hana Skopcová 1; Gabriela Dostálová 2; Tomáš Paleček 2; Aleš Linhart 2; Eva Honsová 3 Authors‘ workplace: Pracoviště klinické a transplantační patologie IKEM Praha 1; II. interní klinika kardiologie a angiologie 1. LF UK a VFN v Praze 2; AeskuLab Patologie k. s. Praha 3 Published in: Čes.-slov. Patol., 57, 2021, No. 1, p. 49-52 Category: Original Article
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.
Fabry disease – histopathology – kidney failure – hypertrophic cardiomyopathy
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