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.

Details

Serval ID
serval:BIB_2179A3EB2F23
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
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.
Journal
Cardiovascular and Hematological Agents in Medicinal Chemistry
Author(s)
Bekri S., Lidove O., Jaussaud R., Knebelmann B., Barbey F.
ISSN
1871-5257 (Print)
ISSN-L
1871-5257
Publication state
Published
Issued date
2006
Peer-reviewed
Oui
Volume
4
Number
4
Pages
289-297
Language
english
Notes
Publication types: Journal Article ; ReviewPublication Status: ppublish
Abstract
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.
Keywords
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
Create date
09/02/2012 16:38
Last modification date
20/08/2019 12:58
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