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Home sleep study characteristics in patients with mucopolysaccharidosis

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Abstract

Background

Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders caused by the deficiency of hydrolases involved in the degradative pathway of glycosaminoglycans. In MPS, upper airway obstruction may result from multiple causative factors which may impact severely upon morbidity and mortality.

Methods

We evaluated upper airway obstructive disease and related clinical findings through home sleep study in 19 patients (11 with MPS VI, 4 with MPS I, 4 with MPS II) with MPS followed at Gazi University Pediatric Metabolic Unit. Patients underwent home-based sleep measurements, and sleep respiratory problems were asked in a detailed clinical history. Measurements of apnea, apnea–hypopnea index (AHI), hypopnea index, oxygen desaturation index, and minimal oxygen saturation were obtained through home sleep study.

Results

For 19 children, the disorder was normal in 1, mild (AHI = 1.5–5/h) in 5, moderate (AHI = 5–10/h) in 2, and severe (AHI > 10/h) in 11. The prevalence of OSA was 94.7 % (18/19) in patients with MPS. Snoring, witnessed apnea, pectus carinatum, and macroglossia were the main clinical findings. Echocardiograms showed evidence of pulmonary hypertension in 13 patients.

Conclusion

Home sleep study is a quick and accessible screening test to determine the abnormalities of breathing during sleep and enables clinicians to take necessary action for patients with severe manifestations.

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Authors and Affiliations

  1. Pediatric Metabolic Unit, Gazi University Hospital, Ankara, Turkey

    Çiğdem Seher Kasapkara, Leyla Tümer, Alev Hasanoğlu, Fatih Süheyl Ezgü & Aynur Küçükçongar

  2. Department of Pediatric Chest Diseases, Gazi University Hospital, Ankara, Turkey

    Ayşe Tana Aslan

  3. Department of Public Health, Gazi University Hospital, Ankara, Turkey

    Zeynep Tunca

  4. Department of Chest Diseases, Gazi University Hospital, Ankara, Turkey

    Oğuz Köktürk

Authors
  1. Çiğdem Seher Kasapkara
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  2. Leyla Tümer
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  3. Ayşe Tana Aslan
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  4. Alev Hasanoğlu
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  5. Fatih Süheyl Ezgü
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  6. Aynur Küçükçongar
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  7. Zeynep Tunca
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  8. Oğuz Köktürk
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Correspondence to Çiğdem Seher Kasapkara.

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Kasapkara, Ç.S., Tümer, L., Aslan, A.T. et al. Home sleep study characteristics in patients with mucopolysaccharidosis. Sleep Breath 18, 143–149 (2014). https://doi.org/10.1007/s11325-013-0862-z

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  • DOI: https://doi.org/10.1007/s11325-013-0862-z

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