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Relationship of sleep to pulmonary function in mucopolysaccharidosis II
William I Wooten1, Joseph Muenzer, Bradley V Vaughn
1Division of Pulmonology, Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7217, USA. wwooten@med.unc.edu
Objective:
To study the sleep characteristics, pulmonary function, and their relationships in an enzyme naive population of patients with mucopolysaccharidoses (MPS) II (Hunter syndrome).
Study Design:
The analyzed subjects (30 patients with MPS II with a median age of 9 years) had been enrolled in an MPS II natural history study and a phase I/II enzyme replacement clinical study in which they underwent standard polysomnography including spirometry and plethysmography, if cooperative. Descriptive statistics and nonparametric correlation were performed for demographic, sleep, and pulmonary function variables.
Results:
Median apnea-hypopnea index was 6.4, with obstructive sleep apnea observed in 27/30 subjects. Sleep architecture was characterized by diminished rapid-eye movement sleep duration (median 13%), and decline in sleep efficiency and slow-wave sleep duration in older individuals. Oxygen desaturation below 90% occurred in 26/30 subjects, and hypoventilation above 50 Torr occurred in 11/23 subjects with accurate end-tidal carbon dioxide recordings. Of 15 subjects with reliable spirometry, median forced expiratory volume in 1 second was below 80% predicted in 12/15 subjects. Forced expiratory volume in 1 second in percent-predicted was inversely related to apnea-hypopnea index and increase from baseline end-tidal carbon dioxide (P=.023, rs=-0.58), (P<.001, rs=-0.82).
Conclusion:
Sleep in MPS II is characterized by obstructive sleep apnea, altered sleep architecture, and impaired gas exchange. Sleep disruption is related to daytime pulmonary function, thus both systems should be evaluated when sleep abnormalities are suspected.
Insights
Patients with mucopolysaccharidoses (MPS) II (Hunter syndrome) frequently experience obstructive sleep apnea and altered sleep architecture. Impaired pulmonary function is linked to sleep disruption, necessitating comprehensive evaluation of both systems.
Area of Science:
- Pulmonary Medicine
- Sleep Medicine
- Rare Diseases
Background:
- Mucopolysaccharidoses (MPS) II, also known as Hunter syndrome, is a rare genetic disorder.
- Patients with MPS II often present with complex health issues, including potential sleep and respiratory complications.
Purpose of the Study:
- To investigate sleep characteristics and pulmonary function in enzyme-naive patients with MPS II.
- To explore the relationship between sleep disturbances and pulmonary function in this population.
Main Methods:
- Polysomnography, spirometry, and plethysmography were performed on 30 enzyme-naive MPS II patients.
- Descriptive statistics and nonparametric correlation analyses were used to evaluate demographic, sleep, and pulmonary variables.
Main Results:
- Obstructive sleep apnea (OSA) was prevalent (27/30 subjects), with a median apnea-hypopnea index of 6.4.
- Sleep architecture showed reduced rapid-eye movement (REM) sleep duration (13%) and decreased sleep efficiency in older patients.
- Impaired pulmonary function (Forced Expiratory Volume in 1 second <80% predicted) was common (12/15 subjects) and inversely correlated with OSA severity and increased CO2 levels.
Conclusions:
- Sleep in MPS II is significantly affected by obstructive sleep apnea and altered sleep architecture.
- Impaired gas exchange and reduced pulmonary function are associated with sleep abnormalities in MPS II patients.
- Concurrent evaluation of sleep and pulmonary function is crucial for managing patients with suspected sleep disorders and MPS II.
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