Document Detail


Respiratory manifestations in mucopolysaccharidoses.
MedLine Citation:
PMID:  21458742     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
Mucopolysaccharidoses (MPS) are a group of inherited, metabolic diseases caused by deficiency of lysosomal enzymes that degrade glycosaminoglycans (GAG). Loss of enzyme activity results in cellular accumulation of GAG fragments leading to the progressive multi-system manifestations. MPS are classified into seven clinical types based on eleven known lysosomal enzyme deficiencies of GAG metabolism. Respiratory involvement is seen in most MPS types with recurrent respiratory infections, upper and lower airway obstruction, tracheomalacia, restrictive lung disease, and sleep disturbances. Patients with airway obstruction are at high risk for anaesthetic complications. In this review, we present the respiratory manifestations in various MPS types and stages, evaluation of respiratory involvement, and treatment options for the progressive respiratory failure that occurs in MPS patients.
Authors:
Marianne S Muhlebach; William Wooten; Joseph Muenzer
Publication Detail:
Type:  Journal Article     Date:  2010-11-26
Journal Detail:
Title:  Paediatric respiratory reviews     Volume:  12     ISSN:  1526-0550     ISO Abbreviation:  Paediatr Respir Rev     Publication Date:  2010 Jun 
Date Detail:
Created Date:  2011-04-04     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100898941     Medline TA:  Paediatr Respir Rev     Country:  England    
Other Details:
Languages:  eng     Pagination:  133-8     Citation Subset:  IM    
Copyright Information:
Copyright © 2010 Elsevier Ltd. All rights reserved.
Affiliation:
Department of Pediatrics, Pulmonology, University of North Carolina at Chapel Hill, NC, USA.
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