Primary ciliary dyskinesia in the paediatric population: range and severity of radiological findings in a cohort of patients receiving tertiary care
Introduction
Primary ciliary dyskinesia (PCD) is a relatively rare autosomal recessive disease characterized by congenital impairment of mucociliary transport. This genetically, functionally, and ultrastructurally heterogeneous disease affects 1 in 20,000 to 1 in 30,000 individuals at birth.1, 2 Clinical manifestations include chronic respiratory tract infections beginning in early childhood and leading to chronic bronchitis and /or bronchiectasis, chronic rhinosinusitis and otitis media. Situs inversus and male infertility are also present in a high percentage of cases. There is a large variation in the severity of clinical phenotype and diagnosis may be difficult due to an overlap with other chronic airways diseases. Therefore a high index of suspicion is necessary for the diagnosis of PCD, which relies on a combination of clinical evaluation and electron microscopic analysis of ciliary ultrastructure. The aim of this study was to review the range and severity of radiological findings in a cohort of patients with PCD referred for tertiary care.
Section snippets
Materials and methods
The case notes and clinical test results of 89 children with known PCD attending the paediatric respiratory diseases clinic at our institution, a tertiary referral centre, were retrospectively analysed. Information gathered included age at PCD diagnosis, details of oto-sino-pulmonary signs and symptoms, affected siblings, spirometry, and sputum microbiology. Ethics committee approval was not required for a retrospective review of this type at our institution.
Diagnostic tests could be
General
Review of the patient database revealed 89 children attending the PCD clinic at the Paediatric Respiratory Diseases Department at our institution. Of the 89 children, 35 were females and 54 males. Median age at presentation was 4 years (range: birth to 14.4 years). Eight patients were diagnosed in the neonatal period and 21 within the first year of life. Overall 24.7% (n = 22) of the children had a positive family history of PCD either involving a sibling or a first-degree relative. Forty-nine
Discussion
To the authors' knowledge this is the largest radiological review of PCD to date. The commonest feature on chest radiography was dextrocardia, seen in just over half of patients. Hyperinflation was observed in nearly half the patients, while ring shadows or bronchial wall thickening were almost invariably present to some degree. These findings are in agreement with previous studies,5 which also found atelectasis and consolidation to be common features.
It is well recognized that HRCT is more
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2019, Respiratory Medicine: XCitation Excerpt :But compared to most other causes of non-CF bronchiectasis, those with PCD are generally younger, have lower lung function, and perhaps more exacerbations / hospitalizations [33]. While PCD-associated bronchiectasis may not manifest until late teens or early adulthood, asymptomatic or symptomatic bronchiectasis may be seen by imaging in PCD-affected children of all ages, including those <5 years-old [30,34]. Haemophilus influenzae, S. aureus, and smooth strains of P. aeruginosa are commonly seen in children with PCD, but infection or colonization with mucoid strains of P. aeruginosa typically does not occur until adulthood [31,35].
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2018, Paediatric Respiratory ReviewsCitation Excerpt :However caution should be taken when applying positioning principles as ventilation is thought to be to be highly variable even amongst healthy children [32]. The location of bronchiectasis within the lung has been found to differ on CT scan of patients with PCD and CF. In CF, the distribution of bronchiectasis is seen mainly in the upper lobes, yet in PCD bronchiectasis is more commonly seen in the middle and lower lobes [33–35]. It has been suggested that the relative sparing of the upper lobes in PCD may be due to the gravitational augmentation of secretion clearance from these areas [35].
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