Amyloïdose héréditaire à transthyrétine [Transthyretin-related hereditary amyloidosis]

Détails

ID Serval
serval:BIB_2C78D664859C
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
Institution
Titre
Amyloïdose héréditaire à transthyrétine [Transthyretin-related hereditary amyloidosis]
Périodique
Revue medicale suisse
Auteur⸱e⸱s
Vionnet J., Pascual M., Kuntzer T., Yerly P., Moradpour D.
ISSN
1660-9379 (Print)
ISSN-L
1660-9379
Statut éditorial
Publié
Date de publication
31/08/2016
Peer-reviewed
Oui
Volume
12
Numéro
528
Pages
1434-1440
Langue
français
Notes
Publication types: English Abstract ; Journal Article
Publication Status: ppublish
Résumé
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
Création de la notice
10/07/2017 17:14
Dernière modification de la notice
20/08/2019 13:11
Données d'usage