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

Details

Serval ID
serval:BIB_0C44A5990756
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
Title
Maladie de Fabry: aspects cliniques et perspectives thérapeutiques [Fabry disease: clinical aspects and therapeutic perspectives].
Journal
Schweizerische Medizinische Wochenschrift
Author(s)
Barbey F., Lidove O., Droz D., Grünfeld J.P.
ISSN
0036-7672 (Print)
ISSN-L
0036-7672
Publication state
Published
Issued date
2000
Peer-reviewed
Oui
Volume
130
Number
21
Pages
763-771
Language
french
Notes
Publication types: English Abstract ; Journal Article ; ReviewPublication Status: ppublish
Abstract
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.
Keywords
Animals, Fabry Disease/diagnosis, Fabry Disease/genetics, Female, Gene Therapy, Heterozygote Detection, Humans, Male, Mice, Mice, Knockout
Pubmed
Web of science
Create date
09/02/2012 14:25
Last modification date
20/08/2019 12:33
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