The role of ceramide trihexoside (globotriaosylceramide) in the diagnosis and follow-up of the efficacy of treatment of Fabry disease: a review of the literature.

Détails

ID Serval
serval:BIB_2179A3EB2F23
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
Institution
Titre
The role of ceramide trihexoside (globotriaosylceramide) in the diagnosis and follow-up of the efficacy of treatment of Fabry disease: a review of the literature.
Périodique
Cardiovascular and Hematological Agents in Medicinal Chemistry
Auteur(s)
Bekri S., Lidove O., Jaussaud R., Knebelmann B., Barbey F.
ISSN
1871-5257 (Print)
ISSN-L
1871-5257
Statut éditorial
Publié
Date de publication
2006
Peer-reviewed
Oui
Volume
4
Numéro
4
Pages
289-297
Langue
anglais
Notes
Publication types: Journal Article ; ReviewPublication Status: ppublish
Résumé
Fabry disease is caused by a deficiency of a-galactosidase A which leads to the progressive intra-lysosomal accumulation of ceramide trihexoside (CTH), also known as globotriaosylceramide (Gb3), in different cell types and body fluids. The clinical manifestations are multisystemic and predominantly affect the heart, kidney and central nervous system. The role of CTH in the pathophysiological process of Fabry disease is not established, and the link between the degree of accumulation and disease manifestations is not systematic. The use of CTH as a diagnostic tool has been proposed for several decades. The recent introduction of a specific treatment for Fabry disease in the form of enzyme replacement therapy (ERT) has led to the need for a biological marker, in place of a clinical sign, for evaluating the efficacy of treatment and also as a tool for following the long term effects of treatment. The ideal biomarker must adhere to strict criteria, and there should be a correlation between the degree of clinical efficacy of treatment and a change in its concentration. This review of the literature assesses the utility of CTH as a diagnostic tool and as a marker of the efficacy of ERT in patients with Fabry disease. Several techniques have been developed for measuring CTH; the principles and the sensitivity thresholds of these methods and the units used to express the results should be taken into consideration when interpreting data. The use of CTH measurement in Fabry disease should be re-evaluated in light of recent published data.
Mots-clé
Biological Markers/blood, Biological Markers/urine, Fabry Disease/diagnosis, Fabry Disease/drug therapy, Female, Glycosphingolipids/blood, Glycosphingolipids/urine, Humans, Male, Phenotype, Sensitivity and Specificity, Treatment Outcome, alpha-Galactosidase/therapeutic use
Pubmed
Création de la notice
09/02/2012 16:38
Dernière modification de la notice
20/08/2019 12:58
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