Anderson-Fabry Disease: A Rare Disease That Mimics Common Cardiac, Neurological, Renal, and Other Disorders: Approach for the Differential Diagnosis and Follow-Up
J. inborn errors metab. screen
;
4: e160025, 2016. tab
Artículo
en Inglés
|
LILACS-Express
| LILACS
| ID: biblio-1090902
ABSTRACT
Abstract Anderson-Fabry disease (AFD) is a rare inherited X-linked disease, caused by mutations of the gene encoding the α-galactosidase A enzyme, that leads to a deficiency or absence of its activity with consequent accumulation of globotriaosylceramide (Gb3) and other glycosphingolipids in the lysosomes of several cells types in the organism, mainly the endothelial, nervous system, cardiac, and renal cells. Its heterogeneous and nonspecific presentation, similar to other common pathologies, delays the diagnosis and leads to incorrect therapy. In the presence of attenuated phenotypes with predominant involvement of an organ, it is even harder to identify patients with AFD. It is highly important to be aware of this diagnosis, since enzyme replacement therapy is currently available. This review aims to approach the clinical manifestations of AFD and the phenotypes related to the differential diagnosis for each manifestation and the frequency of follow-up recommended.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Tipo de estudio:
Estudio diagnóstico
Idioma:
Inglés
Revista:
J. inborn errors metab. screen
Asunto de la revista:
Medicina Cl¡nica
/
Patologia
Año:
2016
Tipo del documento:
Artículo
País de afiliación:
Portugal
Institución/País de afiliación:
Centro Hospitalar Universitário de Coimbra/PT
/
Espinho+PT
/
Centro Hospitalar do Médio Ave/PT
/
Centro Hospitalar Lisboa Norte+PT
/
Largo Professor Abel Salazar/PT
/
Service of Centro Hospitalar do Algarve/PT
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