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Chest. 2015 Mar;147(3):764-770. doi: 10.1378/chest.13-2913.

Bardet Biedl syndrome: motile ciliary phenotype.

Author information

1
PCD Diagnostic Team, Royal Brompton and Harefield NHS Trust, National Heart and Lung Institute, Imperial College. Electronic address: a.shoemark@rbht.nhs.uk.
2
PCD Diagnostic Team, Royal Brompton and Harefield NHS Trust.
3
Institute of Child Health, University College London, Great Ormond Street Hospital NHS Foundation Trust, London, England.

Abstract

BACKGROUND:

Cilia line the surface of the respiratory tract and beat in a coordinated wave to protect the lungs against infection. Bardet Biedl Syndrome (BBS) is a rare condition attributed to cilia dysfunction. Murine models of BBS suggest a respiratory phenotype; however, no reports have studied the translation of these findings in patients.

METHODS:

We assessed the clinical symptoms of motile cilia dysfunction and the histology of ciliated respiratory epithelium in patients with BBS.

RESULTS:

We report an increased prevalence of neonatal respiratory distress at birth (12%), general practitioner-diagnosed asthma (21%), otitis media (33%), and rhinitis (36%) in patients with BBS. These symptoms, however, occurred at a significantly reduced prevalence compared with patients with known motile cilia dysfunction (primary ciliary dyskinesia). Respiratory epithelial assessment revealed cellular damage, significant ciliary depletion (on 60% of ciliated cells), and goblet cell hyperplasia in patients with BBS (50% goblet cells). These findings were quantifiably similar to those of patients with asthma (P > .05). Surprisingly, motile cilia function and ultrastructure were grossly normal with the exception of occasional unique inclusions within the ciliary membrane.

CONCLUSIONS:

In conclusion, motile ciliary structure and function are essentially normal in patients with BBS.

PMID:
25317630
DOI:
10.1378/chest.13-2913
[Indexed for MEDLINE]

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