Amyloïdose héréditaire à transthyrétine [Transthyretin-related hereditary amyloidosis]

Details

Serval ID
serval:BIB_2C78D664859C
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
Amyloïdose héréditaire à transthyrétine [Transthyretin-related hereditary amyloidosis]
Journal
Revue medicale suisse
Author(s)
Vionnet J., Pascual M., Kuntzer T., Yerly P., Moradpour D.
ISSN
1660-9379 (Print)
ISSN-L
1660-9379
Publication state
Published
Issued date
31/08/2016
Peer-reviewed
Oui
Volume
12
Number
528
Pages
1434-1440
Language
french
Notes
Publication types: English Abstract ; Journal Article
Publication Status: ppublish
Abstract
Transthyretin-related hereditary amyloidosis (ATTR) is a progressive and potentially lethal genetic disorder, transmitted as an autosomal dominant trait. Tissue injury is induced by amyloid fibrils consisting of mutated transthyretin. The symptomatology and clinical course of ATTR is highly variable but typically causes peripheral polyneuropathy and autonomic dysfunction, leading to death within 10 years. As transthyretin is produced mainly in the liver, liver transplantation was the first successful therapeutic approach. Several disease-modifying treatments, including transthyretin stabilizers and gene therapy, are now available or in clinical development, with promising results.

Pubmed
Create date
10/07/2017 17:14
Last modification date
20/08/2019 13:11
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