Aspects cliniques et génétiques du syndrome d'Alport [Clinical and genetics aspects of Alport syndrome].

Details

Serval ID
serval:BIB_8494A12016BF
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
Aspects cliniques et génétiques du syndrome d'Alport [Clinical and genetics aspects of Alport syndrome].
Journal
Revue Médicale Suisse
Author(s)
Golshayan D., Venetz J.P., Cachat F., Fellmann F., Moll S., Burnier M., Barbey F.
ISSN
1660-9379 (Print)
ISSN-L
1660-9379
Publication state
Published
Issued date
2006
Volume
2
Number
55
Pages
593-598
Language
french
Notes
Publication types: English Abstract ; Journal Article ; Review Publication Status: ppublish
Abstract
Microscopic haematuria of glomerular origin, without known aetiology, should raise the suspicion of Alport Syndrome IASI in children as well as in adults. The genetic mutations causing AS lie in the genes encoding for the alpha3, alpha4 and alpha5 chains of the collagen type IV, the main constituent of glomerular basement membranes (GBM). The various mutations and modes of transmission of the disease account for the heterogeneous clinical presentations. No specific treatment of AS is currently available. However, a better understanding of the GBM's ultrastructure, in particular of type IV collagen, will hopefully enable the identification of novel therapeutic targets.
Keywords
Decision Trees, Female, Humans, Male, Nephritis, Hereditary/diagnosis, Nephritis, Hereditary/genetics, Pedigree
Pubmed
Create date
25/01/2008 14:45
Last modification date
20/08/2019 15:44
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