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Ultrastructural ciliary defects in children with recurrent infections of the lower respiratory tract
E G Barlocco1, E A Valletta, M Canciani
1Cystic Fibrosis and Pediatric Pulmonology Center, Verona, Italy.
Insights
Primary ciliary dyskinesia (PCD) affects children with recurrent respiratory infections. Ultrastructural ciliary defects were found in 28 children, with dynein arm deficiency being the most common abnormality.
Area of Science:
- Pediatric Pulmonology
- Genetics
- Cell Biology
Background:
- Primary ciliary dyskinesia (PCD) is a genetic disorder affecting cilia function.
- Recurrent lower respiratory tract infections are a hallmark of PCD in children.
- Ultrastructural analysis of cilia is crucial for diagnosing PCD.
Purpose of the Study:
- To evaluate ultrastructural ciliary abnormalities in children with suspected primary ciliary dyskinesia.
- To identify specific ciliary defects associated with PCD.
- To correlate clinical findings with ciliary structure in affected children.
Main Methods:
- Respiratory mucosa samples were collected from 154 children via nasal and bronchial brushing.
- Electron microscopy was used to examine ciliary ultrastructure for abnormalities.
- Clinical data, including symptoms and co-occurring conditions, were analyzed.
Main Results:
- Twenty-eight out of 154 children (18.2%) exhibited ultrastructural ciliary defects indicative of PCD.
- Dynein arm deficiency was the most frequent defect, seen in 24 children.
- Eleven patients had Kartagener's syndrome, a subtype of PCD, with varying ciliary structures.
Conclusions:
- Ultrastructural ciliary defects are confirmed in a significant proportion of children with recurrent respiratory infections.
- Early diagnosis and management of respiratory infections are vital for preventing lung damage in PCD patients.
- Clinical features like early-onset respiratory symptoms and specific infections aid in PCD diagnosis.
Abstract:
One hundred fifty-four children with recurrent or chronic infections of the lower respiratory tract compatible with the diagnosis of primary ciliary dyskinesia (PCD) were evaluated for the presence of ultrastructural ciliary abnormalities. Studies were performed on multiple samples of respiratory mucosa obtained by nasal and bronchial brushing. Twenty-eight children showed ultrastructural ciliary defects compatible with the diagnosis of PCD: Twenty-four presented dynein arm deficiency (either as isolated defect or in association with microtubular abnormalities), two had ciliary aplasia, and two showed microtubular abnormalities. Eleven patients with PCD had situs viscerum inversus, bronchiectasis, and chronic sinusitis (Kartagener's syndrome); one child with Kartagener's syndrome had normal ciliary structure. The appearance of respiratory symptoms within the first month of life, the colonization by Haemophilus influenzae, and a history of recurrent rhinitis and otitis were characteristically present in children with PCD. The clinical status of those patients who reached adolescence was, in our experience, remarkably good. An early diagnosis with adequate prevention and therapy of respiratory infections may have an important role in minimizing irreversible lung damage.