Primary ciliary dyskinesia: diagnosis and standards of care

Abstract

Primary ciliary dyskinesia (PCD) is characterized by disease of the upper and lower respiratory tract, in association with visceral mirror image arrangement in 50% of cases, due to abnormal structure and/or function of cilia. The purpose of this paper is to review the clinical features, diagnosis and management of PCD. Presentations include neonatal respiratory distress, recurrent lower respiratory tract infection, chronic rhinosinusitis and male infertility. PCD enters the differential diagnosis of bronchiectasis, atypical asthma, and unusually severe upper airway disease. Diagnosis is by a cascade of investigations, starting with the saccharin test in patients older than 10 yrs; ciliary beat frequency and pattern on light microscopy; and electron microscopy to assess ciliary morphology and orientation. It is important not to confuse primary and secondary ciliary abnormalities. Nasal nitric oxide is low in PCD, and this measurement shows promise as a screening test for PCD. Diagnosis is important, in order to prevent the development of bronchiectasis and to avoid any unnecessary otorhinolaryngological procedures. Regular follow-up is essential, and management should be multidisciplinary, with input from centres with a special interest in PCD, having access to paediatric and adult chest physicians, otolaryngologists and audiological physicians, physiotherapists, counselling services and fertility clinics. The prognosis is good, but morbidity can be considerable if PCD is incorrectly managed.

A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia

“…unfeasible in nearly 30% of the patients and Kartagener syndrome with normal ciliary ultrastructure), the diagnosis of PCD now relies on the association of TEM analysis and these tools [2,28]. In addition to the evaluation of ciliary beat frequency, which frequently remains the first investigation for the diagnosis of PCD [29], high-resolution, digital highspeed videomicroscopy has been developed to characterise abnormal beat patterns specific for axonemal defects [6,7,30]. Nasal nitric oxide is dramatically reduced in most patients with confirmed PCD [7,31].…”

Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children

“…The prevalence of PCD within the heterotaxic subclass is unknown [45] 40-50% of PCD patients present with situs inversus totalis (Kartagener's syndrome in PCD) [9] 6% show heterotaxy (situs ambiguus) [46] Mild fetal cerebral ventriculomegaly [47] Neonatal .75% of full-term neonates with PCD exhibit neonatal respiratory distress requiring supplemental oxygen for days to weeks [8,9] Continuous rhinorrhoea from the first day of life [48][49][50] Mirror-image organ arrangement and other forms of heterotaxy (see Antenatal rows above) [51] Hydrocephalus may occur in some individuals with PCD, and may reflect dysfunctional ependymal cilia [47,52,53] Childhood Chronic productive or wet-sounding cough, associated or not with recurrent atelectasis or pneumonia Atypical asthma that is nonresponsive to treatment, especially if a wet-sounding cough is present…”

“…Daily rhinitis without remission; nasal polyps are rare at this age [51] Severe chronic sinusitis in older children…”

“…Nasal nitric oxide measurement A number of studies have shown that levels of exhaled nitric oxide, and particularly nasal NO, are very low in PCD [9,51,64,65]. A high or normal nasal NO level can help to exclude PCD, particularly in those in whom the history is not classical, but it should be noted that a few patients with PCD may have levels within the normal range [64].…”

“…Otitis media with effusion is usually managed conservatively, with regular audiological assessment, hearing aids and hearing therapy, since treatment with ventilation tubes (grommets) often results in prolonged and offensive otorrhoea [8,51,105,106].…”