Early Structural Lung Changes in Primary Ciliary Dyskinesia (PCD)

Primary Ciliary Dyskinesia (PCD) is an inherited disorder commonly presenting as an autosomal recessive condition causing dysfunction of muco-ciliary clearance, which can lead to bronchiectasis. As newborn screening is not available for PCD, diagnosis is frequently delayed, often resulting in a degree of structural lung disease being detectable at or soon after diagnosis. Once the diagnosis is established, initiation of therapies including airway clearance aim to prevent or retard any progression to irreversible structural damage.

We aimed to investigate the degree of structural changes evident in early life in PCD by examining chest CT scans in a cross-sectional study in children with PCD aged 3 years of age.

15 young children with proven PCD (young cwPCD) had surveillance chest CT scanning when clinically stable. The presence of bronchial wall thickening, bronchiectasis, collapse/consolidation and air trapping was described in each lobe separately.

Bronchial wall thickening was seen in 50% of all lobes. Bronchiectasis was seen in 38% of lobes, collapse/consolidation in 32% of lobes and air trapping in 20% of lobes. Bronchial wall thickening was seen in 23% of upper lobes, 46% of middle lobes and 80% of lower lobes. Bronchiectasis was seen in 13% of upper lobes and 37% of middle lobes (including lingula) and 63% of lower lobes.

This cross-sectional study of early structural lung disease in PCD suggests that structural changes in PCD are present from early in life and highlights the importance of early diagnosis of PCD and the need to identify effective interventive therapy.