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
Artigo
em Inglês
|
LILACS-Express
| LILACS
| ID: biblio-1090902
Biblioteca responsável:
BR1.1
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:
Disponível
Coleções:
Bases de dados internacionais
Contexto em Saúde:
Doenças Negligenciadas
Problema de saúde:
Diarreia
Base de dados:
LILACS
Tipo de estudo:
Estudo diagnóstico
Idioma:
Inglês
Revista:
J. inborn errors metab. screen
Assunto da revista:
Medicina Cl¡nica
/
Patologia
Ano de publicação:
2016
Tipo de documento:
Artigo
País de afiliação:
Portugal
Instituição/País de afiliação:
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