FABRY DISEASE AS A SPECTRUM OF LATENT MULTISYSTEM MANIFESTATIONS
DOI:
https://doi.org/10.21856/j-PEP.2024.1.13Keywords:
Fabry disease, alpha-galactosidase A, enzyme replacement therapy, stroke, chronic renal failure, angiokeratomasAbstract
Fabry disease is an X-linked lysosomal storage disease caused by mutations in the GLA gene, resulting in α-galactosidase A deficiency and progressive accumulation of glycosphingolipids in various cellular substances. Typical clinical manifestations are acroparesthesia, corneal opacities, hypertrophic cardiomyopathy, hypohidrosis, strokes, proteinuria, and chronic renal failure. However, rare signs of endocrine dysfunction are also known. Diagnosis is quite simple in men, but in women it is more difficult due to the high variability of α-galactosidase A enzyme activity. Therefore, it is important to expand the circle of specialists familiar with the signs of this disease, to worsen the increase in clinical alertness, a qualitative examination and collection of family history are the basis for early detection of Fabry disease. Today, treatment involves enzyme replacement therapy with recombinant human α-galactosidase. We report a case of Fabry disease in a 34-year-old female patient and her two children: a son (16 years old) and a daughter (19 years old).
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