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


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

Overview

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


Sources

1.    Carrel L, Willard HF. X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature 2005; 434(7031): 400–404.

2.    Mehta A, Ricci R, Widmer U et al. Fabry disease defined: baseline clinical manifestation of 48366 patients in the Fabry Outcome Survey. Eur J Clin Invest 2004; 34(3): 236– 242.

3.    Laney DA., Fernhoff PM. Diagnosis of Fabry disease via analysis of family history. J Genet Couns 2008; 17(1): 79-83.

4.    Meikle PJ, Hopwood JJ, Clauge AE et al. Prevalence of lysosomal storage disorders. JAMA 1999; 281(3): 249– 254.

5.    Rolfs A, Bottcher T, Zschiesche M et al. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet 2005; 366(9499): 1794– 1796.

6.    Beck M, Ricci R, Widmer U et al.: Fabry disease: overall effects of agalsidase alfa treatment. Eur J Clin Invest 2004; 34:838-844.

7.    Svarstad E and Marti HP. The Changing Landscape of Fabry Disease. Clin J Am Soc Nephrol. 2020 (DOI: https://doi.org/10.2215/CJN.09480819 Online ahead of print)

8.    Maixnerová D, Tesař V, Ryšavá R et al. The coincidence of IgA nephropathy and Fabry disease. BMC Nephrol 2013; 14: 6.

9.    Linhart A, Kampmann C, Zamorano JL, et al. Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey. Eur Heart J 2007; 28: 1228-1235.

10.  Mitrut R, Stepan AE, Pirici D. Histopathological aspects of the myocardium in dilated cardiomyopathy. Curr Health Sci J 2018; 44: 243-249.

Labels
Anatomical pathology Forensic medical examiner Toxicology

Article was published in

Czecho-Slovak Pathology

Issue 1

2021 Issue 1

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