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 .…”

Accuracy of High-Speed Video Analysis to Diagnose Primary Ciliary Dyskinesia

“…Approximately 50% of patients have situs inversus, and congenital heart disease has been reported in 5% of children. 1 In the absence of a single "gold standard" test, guidelines recommended that diagnosis requires access to a number of tests. 2,3 In our centers, a multidisciplinary team (MDT) of clinical and laboratory staff determines whether patients have PCD using clinical history, nasal nitric oxide (nNO), high-speed video microscopy analysis (HSVA), transmission electron microscopy (TEM), and more recently air-liquid interface (ALI) cell culture, immunofluorescence, and genetic analysis.…”