Chest
Original Research: PediatricsBardet Biedl Syndrome: Motile Ciliary Phenotype
Section snippets
Subjects
A retrospective review of clinical data was analyzed for all patients attending BBS clinics at Great Ormond Street and Guys Hospital who were referred for respiratory cilia function tests. Results from 46 patients were analyzed, of which 24 were men (57%). Ages ranged from < 1 year to 48 years, with an average age of 22 years.
Study Design
Respiratory history was recorded from patients with BBS and their families, concentrating on factors implicated in motile respiratory ciliary dysfunction such as
Patients With BBS Report Respiratory Symptoms
Patients with BBS report an increased prevalence of neonatal respiratory distress at birth, general practitioner (GP)-diagnosed asthma, and rhinitis compared with the general population. These symptoms, however, occurred at a significantly reduced incidence compared with patients with known motile cilia dysfunction (PCD) (Table 1).10, 11, 12, 13, 14, 15, 16
There was no increase in the reported frequency of chest infections or cough, and cough was not wet or productive. Rhinitis was reported to
Discussion
In summary, patients with BBS have a high prevalence of asthma, otitis media, and rhinitis. This is reflected in the nasal epithelial histology, which shows damaged epithelium and goblet cell hyperplasia. Respiratory motile cilia function and structure are largely normal in patients with BBS; however, a small proportion of cilia contain inclusions within the ciliary membrane, unique to BBS and visible by electron microscopy.
BBS proteins form a structure known as the BBSome, located at the base
Conclusions
In conclusion, motile ciliary structure and function were essentially normal in > 90% of cilia sampled in this BBS cohort. Patients do not have the classic clinical phenotype associated with motile ciliary dysfunction and, as a result, do not warrant associated therapies such as chest physiotherapy or prolonged antibiotic treatment for respiratory symptoms. However, we would recommend monitoring and control of asthmatic and ear, nose, and throat symptoms. When abnormalities occur, they appear
Acknowledgments
Author contributions: A. S. is guarantor of the article and takes responsibility for the content of the manuscript, including the data and analysis. A. S., P. L. B., and C. L. H. contributed to the study conception and design; A. S., M. D., and P. L. B. contributed to the acquisition and analysis of the data; and A. S., M. D., P. L. B., and C. L. H. contributed to the interpretation of the data and the writing and editing of the manuscript.
Financial/nonfinancial disclosures: The authors have
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Motile cilia and airway disease
2021, Seminars in Cell and Developmental BiologyCitation Excerpt :More recently, hemizygous OFD1 frameshift mutations located in exons 20 and 21 have been characterized in several males with X-linked recessive non-syndromic PCD [144,145]. In patients with Bardet-Biedl syndrome, assessment of respiratory epithelial cells showed significant ciliary depletion and goblet cell hyperplasia, in keeping with an increased prevalence of neonatal respiratory distress at birth, asthma, otitis media, and rhinitis found in BBS patients [146]. Recent years have seen unprecedented progress in defining the molecular, cellular and developmental nature of the human ciliated airway in health and disease [147–149].
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FUNDING/SUPPORT: The authors have reported to CHEST that no funding was received for this study.
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