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

The Journal of Pediatrics
|January 12, 2013
PubMed
Abstract

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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