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Updated: Aug 14, 2026
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High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
Published on: January 19, 2022
Sleep-Disordered Breathing in Primary Ciliary Dyskinesia
Merve Selçuk Balcı1, Ceren Ayça Yıldız2, Ela Erdem Eralp2
1Division of Pediatric Pulmonology, Hatay Training and Research Hospital, Antakya, Turkiye.
Pediatric Pulmonology
|August 13, 2026
Summary
Sleep-disordered breathing (SDB) is common in Primary Ciliary Dyskinesia (PCD), affecting airway health and potentially worsening disease. Early sleep assessment and management are crucial for improving patient outcomes and quality of life.
Area of Science:
- Pulmonology
- Genetics
- Sleep Medicine
Background:
- Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder causing impaired mucociliary clearance and chronic airway infections.
- Sleep-disordered breathing (SDB) is an under-recognized comorbidity in PCD patients.
Purpose of the Study:
- This review synthesizes evidence on SDB prevalence, pathophysiology, diagnosis, and management in PCD.
- It covers both pediatric and adult populations.
Main Methods:
- Literature review of current evidence on SDB in PCD.
- Analysis of prevalence data, diagnostic tools, and treatment strategies.
Main Results:
- Obstructive sleep apnea (OSA) prevalence in PCD varies widely, potentially exceeding general population rates.
- Upper airway abnormalities are common in PCD, contributing to nocturnal hypoxemia.
- Polysomnography (PSG) is the gold standard for diagnosis; questionnaires show poor correlation.
- Sleep architecture is generally preserved, but sleep efficiency is reduced with elevated arousal indices.
- Psychological and neurocognitive issues are associated with SDB in PCD.
- Management includes upper airway treatment and positive airway pressure (PAP) therapy if needed.
Conclusions:
- SDB is a multifactorial contributor to PCD burden.
- Integrating sleep assessment into routine PCD care is essential.
- Multicenter, genotype-informed research is needed to improve recognition and management.
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