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Expert Rev Respir Med. 2017 Oct;11(10):779-790. doi: 10.1080/17476348.2017.1360770. Epub 2017 Aug 2.

Clinical care of children with primary ciliary dyskinesia.

Author information

1
a Primary Ciliary Dyskinesia Centre, NIHR Biomedical Research Centre , University of Southampton and University Hospital Southampton , Southampton , United Kingdom.
2
b Department of Otorhinolaryngology - Head and Neck Surgery , University Hospital Rigshospitalet , Copenhagen , Denmark.
3
c Department of Clinical Microbiology, Afsnit 9301 , University Hospital Rigshospitalet , Copenhagen , Denmark.
4
d Department of Clinical Medicine, Faculty of Health and Medical Sciences , University of Copenhagen , Copenhagen , Denmark.
5
e Danish PCD & chILD Centre, CF Centre Copenhagen Paediatric Pulmonary Service, ERN Accredited for PCD and CF Health Care, Department of Paediatrics and Adolescent Medicine , Copenhagen University Hospital, Rigshospitalet , Copenhagen , Denmark.
6
f APHP, Bicetre University Hospital , ENT Department, Universite Paris-Sud, Faculté de Médecine , Le Kremlin-Bicetre , France.
7
g PCD Service, Department of Respiratory and Sleep Medicine , Royal Children's Hospital , Melbourne , Australia.

Abstract

Primary ciliary dyskinesia (PCD) is a rare heterogeneous disorder, usually inherited as an autosomal recessive condition but X-linked inheritance is also described. Abnormal ciliary function in childhood leads to neonatal respiratory distress in term infants, persistent wet cough, bronchiectasis, chronic rhinosinusitis, and hearing impairment; approximately 50% of patients have situs inversus. There is a paucity of evidence for treating PCD, hence consensus guidelines are predominantly influenced by knowledge from cystic fibrosis (CF). Extrapolation of evidence from other diseases is inappropriate since differences in pathophysiology, morbidity and prognosis risk treatment failure and lack of adherence. Areas covered: Review authors searched PubMed and Cochrane databases for publications relating to management of children with PCD. Because of the paucity of data, we emphasise the need for well-designed clinical trials with PCD patients rather than reliance on evidence from other diseases. Expert commentary: The evidence for treatment of PCD is poor, and management is often extrapolated from studies of patients with CF or chronic rhinosinusitis. However, much work is underway to improve the situation and international consortia and networks are conducting well-designed projects to inform the management of children with PCD.

KEYWORDS:

PCD; Primary ciliary dyskinesia; kartagener; management; microbiology; rare diseases; review; therapy; transition

PMID:
28745925
DOI:
10.1080/17476348.2017.1360770
[Indexed for MEDLINE]

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