Abstract
Mucopolysaccharidosis type II (MPSII) patients frequently suffer from dyspnoea caused by restrictive airway disease due to skeletal abnormalities as well as glycosaminoglycans (GAG) accumulation at different levels of the airway, including the trachea. In this study we describe the extent of the tracheal and bronchial narrowing, the changes in airway diameter during respiration and the effects of these obstructions on respiratory function in adult MPSII patients.this was 58 (range 26-66%) on the left and 44 (range 9-76%) on the right side. The pulmonary function tests showed that this airway collapse results in obstructive airway disease in all patients, which was severe (forced expiratory volume <50% of predicted) in four out of five patients.
CONCLUSION: In adult MPS II patients, central airways diameters are strikingly reduced and upon expiration there is extensive collapse of the trachea and main bronchi. This central airways obstruction explains the severe respiratory symptoms in MPSII patients.
Original language | English |
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Pages (from-to) | 50 |
Journal | Orphanet Journal of Rare Diseases |
Volume | 11 |
DOIs | |
Publication status | Published - 26 Apr 2016 |
Externally published | Yes |
Keywords
- Adult
- Airway Obstruction/physiopathology
- Bronchi/pathology
- Female
- Humans
- Male
- Middle Aged
- Mucopolysaccharidosis II/pathology
- Respiratory Function Tests
- Trachea/pathology