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Ciliary abnormalities in respiratory disease
R M Buchdahl1, J Reiser, D Ingram
1Paediatric Respiratory Department, Brompton Hospital, London.
Insights
Children with chronic respiratory issues may have ciliary dyskinesia, a condition affecting cilia function. Early investigation is recommended, especially for those with symptoms from birth.
Area of Science:
- Pediatric Pulmonology
- Cell Biology
- Genetics
Background:
- Chronic respiratory diseases in children present a significant clinical challenge.
- Ciliary dyskinesia (CD) is a rare genetic disorder affecting mucociliary clearance.
- Accurate diagnosis of CD is crucial for appropriate management and genetic counseling.
Observation:
- 167 children with chronic respiratory problems were evaluated for ciliary function.
- Abnormal ciliary function was identified in 18 children (10.8%), all with chronic lower respiratory disease.
- Perinatal respiratory symptoms were more prevalent in children with diagnosed ciliary dyskinesia.
Findings:
- Reduced ciliary beat frequency (<10 Hz) was observed in 15 out of 18 CD cases.
- Three cases exhibited an apparent absence of ciliated cells.
- Ultrastructural analysis revealed normal cilia in 7 CD cases and abnormalities (missing dynein arms, microtubular defects) in 8 cases.
Implications:
- Suggests ciliary dyskinesia should be investigated in children with unexplained chronic respiratory disease.
- Highlights the importance of considering CD in cases with a history of perinatal respiratory symptoms.
- Emphasizes the need for further research into the genetic and clinical spectrum of pediatric ciliary dyskinesia.
Abstract:
One hundred and sixty seven children, ranging in age from 5 weeks to 16 years, with chronic upper or lower respiratory tract problems, or both, were investigated for ciliary dyskinesia. Abnormal ciliary function was found in 18 cases all of whom had chronic lower respiratory disease and most of whom also had upper respiratory problems. Fifteen of the 18 cases had reduced ciliary beat frequencies (less than 10 Hz) associated with dyskinesia and the other three showed apparent absence of ciliated cells. Of the 15 cases with reduced ciliary beat frequencies, ciliary ultrastructure was normal in seven cases but abnormal with missing dynein arms and occasional abnormalities of microtubular arrangement in eight. Respiratory symptoms in the perinatal period were more common in children with abnormal ciliary function and present in all those with ultrastructural abnormalities or absence of ciliated cells compared with 34 (26%) of 132 children, in whom symptoms were recorded, with normal ciliary function. This study would suggest that all children with unexplained chronic respiratory disease, in particular those with symptoms starting in the perinatal period, should be investigated for ciliary dyskinesia.