Amelia Shoemark1, Mellisa Dixon2, Philip L Beales3, Claire L Hogg2. 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.
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.
Authors: Mustafa M Munye; Amelia Shoemark; Robert A Hirst; Juliette M Delhove; Tyson V Sharp; Tristan R McKay; Christopher O'Callaghan; Deborah L Baines; Steven J Howe; Stephen L Hart Journal: Am J Physiol Lung Cell Mol Physiol Date: 2016-12-15 Impact factor: 5.464
Authors: Laura E Gardner; Katie L Horton; Amelia Shoemark; Jane S Lucas; Kim G Nielsen; Helene Kobbernagel; Bruna Rubbo; Robert A Hirst; Panayiotis Kouis; Nicola Ullmann; Ana Reula; Nisreen Rumman; Hannah M Mitchison; Andreia Pinto; Charlotte Richardson; Anne Schmidt; James Thompson; René Gaupmann; Maciej Dabrowski; Pleasantine Mill; Siobhan B Carr; Dominic P Norris; Claudia E Kuehni; Myrofora Goutaki; Claire Hogg Journal: BMC Proc Date: 2020-06-19