Pulmonary Involvement in Adult Patients with Inborn Errors of Metabolism.

Details

Serval ID
serval:BIB_AB71CE024522
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 Adult Patients with Inborn Errors of Metabolism.
Journal
Respiration; international review of thoracic diseases
Author(s)
Tran C., Barbey F., Lazor R., Bonafé L.
ISSN
1423-0356 (Electronic)
ISSN-L
0025-7931
Publication state
Published
Issued date
2017
Peer-reviewed
Oui
Volume
94
Number
1
Pages
2-13
Language
english
Notes
Publication types: Journal Article ; Review
Publication Status: ppublish
Abstract
Inborn errors of metabolism (IEM) are rare individually, but taken together, they affect 1 in 1,000 people. Most of the disease becomes apparent at the pediatric age; however, with the identification of late-onset forms, and with improved survival, several of these conditions may be found in adults of all ages. While the lung is not typically a primary site of clinical disease in patients with IEM, in some of them it can be a significantly affected organ with associated severe respiratory complications. Lung involvement can be a late- onset feature of a complex multisystemic disease, but sometimes it can also be the only manifestation of underlying IEM. The aim of this review is to focus on specific IEM associated with lung disease in adults and to provide the reader with an overview of the diagnostic workup, overall disease management, and specific treatments for the respiratory manifestations. Clinical suspicion, early recognition, prompt diagnosis, and appropriate care of the respiratory manifestation are crucial, as they can affect both the life expectancy and the quality of life of these patients.
Keywords
Adult, Disease Management, Humans, Lung Diseases/diagnosis, Lung Diseases/physiopathology, Lung Diseases/therapy, Metabolism, Inborn Errors/diagnosis, Metabolism, Inborn Errors/physiopathology, Metabolism, Inborn Errors/therapy, Enzyme replacement therapy, Inborn errors of metabolism, Interstitial lung diseases, Sphingolipidosis
Pubmed
Web of science
Open Access
Yes
Create date
23/05/2017 17:44
Last modification date
20/08/2019 16:15
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