Traitement de la maladie de Fabry : succès, échecs, espoirs [Treatment of Fabry disease: Successes, failures, and expectations]

Détails

ID Serval
serval:BIB_84039333BC6A
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Titre
Traitement de la maladie de Fabry : succès, échecs, espoirs [Treatment of Fabry disease: Successes, failures, and expectations]
Périodique
Nephrologie & therapeutique
Auteur(s)
Lidove O., Barbey F., Joly D.
ISSN
1872-9177 (Electronic)
ISSN-L
1769-7255
Statut éditorial
Publié
Date de publication
04/2016
Peer-reviewed
Oui
Volume
12 Suppl 1
Pages
S105-13
Langue
français
Notes
Publication types: Journal Article ; Review
Publication Status: ppublish
Résumé
Fabry disease, an X-linked lysosomal storage disease, results from α-galactosidase A deficiency. Two different recombinant enzyme treatments (algalsidase alpha agalsidase beta) have been available since 2001 to treat a disease that affects not only men but also women. Enzyme replacement therapy promotes cell clearance of susbtrate, and improves some clinical parameters (heart, kidney damage, pain, quality of life). However, there is no proven efficacy to date on central nervous system lesions, on cardiac morbidity and mortality, nor on renal damage beyond a certain stage (proteinuria>1g/day and/or estimated glomerular filtration rate<60mL/min/1.73m(2)). In this review, we discuss the potential benefit of an early intervention, the vascular protective measures to be associated with enzyme therapy and their rationale, and some alternative treatments under development, such as chaperones and substrate molecules inhibitors.

Mots-clé
Enzyme Replacement Therapy/methods, Fabry Disease/drug therapy, Female, Humans, Isoenzymes/administration & dosage, Male, Quality of Life, Treatment Outcome, alpha-Galactosidase/administration & dosage, Agalsidase, Clinical efficacy, Efficacité clinique, Enzyme therapy, Fabry disease, Maladie de Fabry, Traitement enzymatique
Pubmed
Création de la notice
17/03/2016 19:09
Dernière modification de la notice
03/03/2018 18:53
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