Clinical care of children with primary ciliary dyskinesia

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.

ERS and ATS diagnostic guidelines for primary ciliary dyskinesia: similarities and differences in approach to diagnosis

“…Early diagnosis facilitates treatment with an aim to delay the onset of bronchiectasis, reduce loss of lung function, optimise hearing and manage symptoms of rhinosinusitis [2]. However, diagnosis is often missed or delayed, and until recently, there were no standards for confirming or refuting a diagnosis [3][4][5].…”

The impact of mannose‐binding lectin polymorphisms on lung function in primary ciliary dyskinesia

“…Notably, PCD leads to abnormal ciliary function . This in turn obstructs mucociliary clearance, causing recurrent and often chronic infections in the upper and lower respiratory tracts . Mirror imaging of the internal organs is seen in 40% to 50% of patients with PCD .…”

Infant nasal nitric oxide over time: natural evolution and impact of respiratory tract infection

“…Although there is currently limited evidence-based treatment for patients with PCD [10,11], an earlier age at diagnosis than the current mean of 5.3 years [12] is highly warranted because it may provide the potential to prevent and reduce early lung damage and other disease manifestations [13][14][15][16] that are involved in reducing quality of life in patients with PCD [17].…”