Combined heart and kidney transplantation in a patient with Fabry disease in the enzyme replacement therapy era.
Am J Transplant
; 8(6): 1345-8, 2008 Jun.
Article
em En
| MEDLINE
| ID: mdl-18522550
ABSTRACT
Fabry disease (FD) is an X-linked genetic disease, resulting from the deficiency of alpha-galactosidase A, a lysosomal enzyme responsible for the cleavage of glycosphingolipids. In absence of enzyme replacement therapy (ERT), globotriaosylceramide (Gb3) accumulates in tissue, leading to progressive organ damage with severe renal, cardiac and central nervous system complications. We herein describe the first case of successful combined and simultaneous heart and kidney transplantation in a young male patient with FD complicated by end-stage renal disease and severe heart failure not responding to late-onset ERT. Combined heart and kidney transplantation can be recommended for Fabry patients with end-stage renal disease and overt hypertrophic cardiomyopathy, severe ischemic or valvular heart disease.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Doença de Fabry
/
Insuficiência Cardíaca
/
Falência Renal Crônica
Idioma:
En
Ano de publicação:
2008
Tipo de documento:
Article