Primary ciliary dyskinesia: Overlooked and undertreated in children

Authors

  • Patrick Hosie,

    1. Discipline of Paediatrics, School of Women's and Children's Health, University of New South Wales, New South Wales, Australia
    2. Department of Respiratory Medicine, The Children's Hospital at Westmead, Sydney Medical School, Sydney, New South Wales, Australia
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  • Dominic A Fitzgerald,

    Corresponding author
    1. Department of Respiratory Medicine, The Children's Hospital at Westmead, Sydney Medical School, Sydney, New South Wales, Australia
    2. Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia
    • Correspondence: Dr Dominic A Fitzgerald, Department of Respiratory Medicine, The Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145, Australia. Fax: +61 2 9845 3396; email: paddyhosie@gmail.com

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  • Adam Jaffe,

    1. Discipline of Paediatrics, School of Women's and Children's Health, University of New South Wales, New South Wales, Australia
    2. Department of Respiratory Medicine, Sydney Children's Hospital, Sydney, New South Wales, Australia
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  • Catherine S Birman,

    1. Department of ENT Surgery, The Children's Hospital at Westmead, Sydney Medical School, Sydney, New South Wales, Australia
    2. Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia
    3. Australian School of Advanced Medicine, Macquarie University, Sydney, New South Wales, Australia
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  • Lucy Morgan

    1. Discipline of Adult Medicine, University of Sydney, Sydney, New South Wales, Australia
    2. Department of Thoracic Medicine, Concord Hospital, Sydney, New South Wales, Australia
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  • Conflict of interest: No conflicts of interest.

Abstract

Primary ciliary dyskinesia (PCD) is a multi-organ disorder associated with chronic oto-sino-pulmonary disease, neonatal respiratory distress, situs abnormalities and reduced fertility. Repeated respiratory tract infections leads to the almost universal development of bronchiectasis. These clinical manifestations are a consequence of poorly functioning motile cilia. However, confirming the diagnosis is quite difficult and is often delayed, so the true incidence of PCD may be significantly higher than current estimates. Nasal nitric oxide has been earmarked as a useful screening tool for identifying patients, but its use is limited in pre-school-aged children. Due to the rarity of PCD, the evidence base for management is somewhat limited, and treatment regimens are extrapolated from other suppurative lung disorders, like cystic fibrosis.

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