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Original Research: Pediatrics |

Bardet Biedl SyndromeBardet Biedl Syndrome: Motile Ciliary Phenotype: Motile Ciliary Phenotype

Amelia Shoemark, PhD; Mellisa Dixon, PhD; Philip L. Beales, MD; Claire L. Hogg, MBChB
Author and Funding Information

From the PCD Diagnostic Team (Drs Shoemark, Dixon, and Hogg), Royal Brompton and Harefield NHS Trust; the National Heart and Lung Institute (Dr Shoemark), Imperial College; the Institute of Child Health (Dr Beales), University College London; and Great Ormond Street Hospital NHS Foundation Trust (Dr Beales), London, England.

CORRESPONDENCE TO: Amelia Shoemark, PhD, Electron Microscopy Unit, Royal Brompton Hospital, Sydney St, London, SW3 6NP, England; e-mail: a.shoemark@rbht.nhs.uk


FUNDING/SUPPORT: The authors have reported to CHEST that no funding was received for this study.

Reproduction of this article is prohibited without written permission from the American College of Chest Physicians. See online for more details.


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

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Figures

Tables

Video 1.

Normal Ciliary Beat in Healthy Control

Video 2.

Normal Ciliary Beat in BBS

Video 3.

Ciliary Depletion and Short Cilia in BBS

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