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Cesk Patol ; 57(1): 49-52, 2021.
Article in English | MEDLINE | ID: mdl-33910349

ABSTRACT

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.


Subject(s)
Fabry Disease , Kidney Failure, Chronic , Fabry Disease/complications , Fabry Disease/diagnosis , Fabry Disease/genetics , Humans , Kidney , Kidney Failure, Chronic/complications , Male , Middle Aged , Mutation , alpha-Galactosidase/genetics
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