Fabry disease with cardiovascular manifestation in a patient with end-stage renal disease.
Cesk Patol
; 57(1): 49-52, 2021.
Article
em En
| 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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Fabry
/
Falência Renal Crônica
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
/
Male
/
Middle aged
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article