Article
Fabry disease with cardiovascular manifestation in a patient with end-stage renal disease.
Ceskoslovenska patologie - 1 Jan 2021
Skopcová Hana, Dostálová Gabriela, Paleček Tomáš, Linhart Aleš, Honsová Eva
Abstract excerpt
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...
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