Fabry disease with cardiovascular manifestation in a patient with end-stage renal disease

Česká verzia

Authors: Hana Skopcová ¹; Gabriela Dostálová ²; Tomáš Paleček ²; Aleš Linhart ²; Eva Honsová ³
Authors place of work: 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 the journal: Čes.-slov. Patol., 57, 2021, No. 1, p. 49-52
Category: Original Article

Summary

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.

Keywords:

Fabry disease – histopathology – kidney failure – hypertrophic cardiomyopathy

Zdroje

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