Maladie de Fabry: aspects cliniques et perspectives thérapeutiques [Fabry disease: clinical aspects and therapeutic perspectives].

Détails

ID Serval
serval:BIB_0C44A5990756
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
Maladie de Fabry: aspects cliniques et perspectives thérapeutiques [Fabry disease: clinical aspects and therapeutic perspectives].
Périodique
Schweizerische Medizinische Wochenschrift
Auteur(s)
Barbey F., Lidove O., Droz D., Grünfeld J.P.
ISSN
0036-7672 (Print)
ISSN-L
0036-7672
Statut éditorial
Publié
Date de publication
2000
Peer-reviewed
Oui
Volume
130
Numéro
21
Pages
763-771
Langue
français
Notes
Publication types: English Abstract ; Journal Article ; ReviewPublication Status: ppublish
Résumé
Fabry's disease is one of the lysosomal disorders. It is due to a hereditary alpha-galactosidase A defect with X-linked recessive transmission. A majority of hemizygotes develop severe multisystemic involvement (classic form), dominated by relentless renal failure and progressive neurological and cardiac lesions. Nevertheless, some affected individuals retain sufficient enzyme activity and long remain asymptomatic (atypical form); their main manifestation is hypertrophic cardiomyopathy. Female carriers are usually asymptomatic; 15%, however, have severe involvement of one or more organs. Laboratory, histological and molecular diagnosis identifies 100% of hemizygotes and over 80% of heterozygotes. With recent developments in molecular genetics it is possible to produce the human recombinant enzyme alpha-GALA. Its effects in hemizygous patients remain to be evaluated. In addition, the results of a trial of gene therapy in a Fabry's disease gene knocked-out mouse appear promising. These new therapeutic approaches will probably soon provide substitutive treatment for Fabry's disease as well as for so-called "orphan" diseases.
Mots-clé
Animals, Fabry Disease/diagnosis, Fabry Disease/genetics, Female, Gene Therapy, Heterozygote Detection, Humans, Male, Mice, Mice, Knockout
Pubmed
Web of science
Création de la notice
09/02/2012 14:25
Dernière modification de la notice
20/08/2019 12:33
Données d'usage