Fabry Nefropathy

Marius Miglinas, Pranas Šerpytis, Urtė Gargalskaitė, Justė Danieliūtė, Algirdas Utkus Abstract Anderson-Fabry disease (AFD) is a X-linked lysosomal storage disorder caused by mutations of the GLA gene that encodes α-galactosidase A, what causes intracellular accumulation of globotriaosylceramide. The main manifestations of AFD are pain attacks, acroparasthesias, cutaneous angiokeratomas, hypohydrosis, kidney, heart and cerebrovascular disorders. Late…

Fabry Cardiomyopathy

Pranas Šerpytis, Žaneta Petrulionienė, Jolita Badarienė, Urtė Gargalskaitė, Justė Danieliūtė, Algirdas Utkus Abstract Anderson-Fabry disease (AFD) is a X-linked lysosomal storage disorder caused by mutations of the GLA gene that encodes α-galactosidase A, what causes intracellular accumulation of globotriaosylceramide and due to this – progressive renal, cardiac and cerebrovascular disease. Whereas men experience the most…