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
Article
Dans Anglais
|
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.
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Type d'étude:
Etude diagnostique
langue:
Anglais
Texte intégral:
J. inborn errors metab. screen
Thème du journal:
Medicina Cl¡nica
/
Patologia
Année:
2016
Type:
Article
Pays d'affiliation:
Portugal
Institution/Pays d'affiliation:
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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