Pulmonary involvement in Fabry disease: Overview and perspectives.
Details
Serval ID
serval:BIB_E5916E9AF07D
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
Pulmonary involvement in Fabry disease: Overview and perspectives.
Journal
European Journal of Internal Medicine
ISSN
1879-0828 (Electronic)
ISSN-L
0953-6205
Publication state
Published
Issued date
2013
Volume
24
Number
8
Pages
707-713
Language
english
Notes
Publication types: Journal ArticlePublication Status: ppublishDocument Type: Review
Abstract
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
Create date
03/01/2014 9:31
Last modification date
20/08/2019 16:08