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. 2022 Feb;11(1):34-36.
doi: 10.5582/irdr.2021.01132.

Fabry disease - a genetically conditioned extremely rare disease with a very unusual course

Mirosław Śnit  1 , Marcela Przyłudzka  1 , Władysław Grzeszczak  1
Affiliations

Fabry disease - a genetically conditioned extremely rare disease with a very unusual course

Mirosław Śnit et al. Intractable Rare Dis Res. 2022 Feb.

Abstract

Fabry disease (FD) is a rare lysosomal storage disease. FD is caused by the presence of a deleterious mutation in the GLA gene encoding the enzyme alpha galactosidase A (αGAL A) on the X chromosome. The accumulation of Gb3 and lyso-GL-3 in nerve fiber cells, endothelium, vascular muscle cells, mesangial cells, podocytes, renal tubular epithelial cells and cardiomyocytes is the most important pathogenetic factor. The rate of disease progression depends on residual conserved enzymatic activity. In this article we present an example of a 25-year-old patient with FD with an initial asymptomatic course. The first manifestation of FD developed in the third decade of life. These include high blood pressure, urinary changes and grade V renal failure, requiring renal replacement therapy. The diagnosis was made very late, when renal failure and cerebro-cardiac complications occurred, including stroke and dangerous cardiac tamponade.

Keywords: cardiovascular complications; fabry disease; renal failure.

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Conflict of interest statement

The authors have no conflicts of interest to disclose.

Figures

Figure 1.
Figure 1.
Inheritance of the c.109G> C mutation occurring in Fabry disease on the example of the patient's family. Red color - the presence of a mutation. Black color - no mutation. White - unaudited family members (deceased).
See this image and copyright information in PMC

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