Chapter

Primary ciliary dyskinesia

Claire Hogg

in Ciliopathies

Published on behalf of Oxford University Press

Published in print September 2013 | ISBN: 9780199658763
Published online October 2013 | e-ISBN: 9780191763328 | DOI: https://dx.doi.org/10.1093/med/9780199658763.003.0012
Primary ciliary dyskinesia

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Primary ciliary dyskinesia (PCD) is an inherited disorder affecting the structure and function of the motile cilia which line the entire respiratory tract. Damage to the structure of cilia disrupts the co-ordination of their beat pattern and results in accumulation of mucus and potential pathogens. Early signs are inability to clear foetal lung liquid at birth, situs inversus resulting from ciliary failure during embryogenesis and early onset of rhinitis and wet cough. Screening for PCD, using nasal nitric oxide measurement, is both available and highly sensitive but definitive diagnosis involves a combination of functional assessments, using ciliary beat analysis, structural assessment of the ciliary axonemal proteins using transmission electron microscopy and in some cases genotyping. Management of PCD requires regular specialist multi-system review and an aggressive approach to airway clearance. Dedicated PCD clinics should incorporate same day access to ENT and audiology, specialist physiotherapy, nursing and lung function testing.

Chapter.  9984 words.  Illustrated.

Subjects: Clinical Genetics

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