Pulmonary involvement in Fabry disease: Overview and perspectives.

Détails

ID Serval
serval:BIB_E5916E9AF07D
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
Pulmonary involvement in Fabry disease: Overview and perspectives.
Périodique
European Journal of Internal Medicine
Auteur⸱e⸱s
Franzen D., Krayenbuehl P.A., Lidove O., Aubert J.D., Barbey F.
ISSN
1879-0828 (Electronic)
ISSN-L
0953-6205
Statut éditorial
Publié
Date de publication
2013
Volume
24
Numéro
8
Pages
707-713
Langue
anglais
Notes
Publication types: Journal ArticlePublication Status: ppublishDocument Type: Review
Résumé
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by deficiency of alpha-galactosidase A, which leads to storage of sphingolipids in virtually all human cells and consequently to organ dysfunction. Pulmonary involvement is still debated. But, obstructive lung disease is up to ten times more prevalent in patients with FD compared to general public. Also, an accelerated decline in forced expiratory volume in one second (FEV1) over time was observed in these patients. Lysosomal storage of glycosphingolipids is considered leading to small airway disease via hyperplasia of the bronchiolar smooth muscle cells. Larger airways may become involved with ongoing disease process. There is no evidence for involvement of the lung interstitium in FD. The effect of enzyme replacement therapy on respiratory involvement remains to be determined in large, prospective controlled trials.
Pubmed
Web of science
Création de la notice
03/01/2014 10:31
Dernière modification de la notice
20/08/2019 17:08
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