Presentation of primary ciliary dyskinesia in children: 30 years' experience

Patrick H. Hosie, Dominic A. Fitzgerald*, Adam Jaffe, Catherine S. Birman, Jonathan Rutland, Lucy C. Morgan

*Corresponding author for this work

    Research output: Contribution to journalArticlepeer-review

    39 Citations (Scopus)


    Aim Primary ciliary dyskinesia (PCD) is a rare (1:15 000) condition resulting in recurrent suppurative respiratory tract infections, progressive lung damage and hearing impairment. As the diagnosis is often delayed for years, the purpose of this study was to review the presenting features of children with PCD attending Australia's initial diagnostic PCD service over a 30-year period. Method A retrospective review of the symptoms of children diagnosed with PCD at Concord Hospital between 1982 and 2012 was undertaken. Results One thousand thirty-seven paediatric patients were referred for assessment and underwent nasal ciliary brushing. Eighty-four (8.1%) had PCD based on microscopic analysis of nasal cilia. This included 81 with ciliary ultrastructural abnormalities demonstrated on electron microscopy and 3 with a suggestive phenotype, reduced ciliary beat frequency and a family history of PCD. The median age at diagnosis was 6.4 years (range 0.1 to 18.2 years). Forty-six per cent had situs abnormalities and 31% had a family member with PCD. Recurrent cough (81%), rhinosinusitis (71%), recurrent otitis media (49%) and neonatal respiratory distress (57%) were reported. Bronchiectasis at presentation was documented in 32%. Situs abnormalities and neonatal respiratory distress were present together in 26%. Conclusion PCD remains under-recognised by health-care workers. The combination of neonatal respiratory distress, chronic suppurative cough and rhinosinusitis was the most common documented symptom cluster at presentation in cases of PCD. A heightened awareness of the clinical features of the disease may help to lower the age at diagnosis, facilitate appropriate treatment and improve long-term outcomes.

    Original languageEnglish
    Pages (from-to)722-726
    Number of pages5
    JournalJournal of Paediatrics and Child Health
    Issue number7
    Publication statusPublished - 1 Jul 2015


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