Related Experiment Videos
Primary ciliary dyskinesia syndrome associated with abnormal ciliary orientation in infants
E Biggart1, K Pritchard, R Wilson
1Paediatric Respiratory Medicine, Imperial College of Science, Technology and Medicine at National Heart and Lung Institute, Royal Brompton Hospital, London, UK.
Insights
Normal ciliary orientation ranges in infants are now established, similar to adults. This finding is crucial for diagnosing primary ciliary dyskinesia (PCD) in newborns, especially when cilia structure appears normal.
Area of Science:
- Pediatrics
- Respiratory Medicine
- Genetics
Background:
- Primary ciliary dyskinesia (PCD) is a genetic disorder affecting cilia function.
- Half of PCD cases present in newborns, yet normal ciliary orientation ranges for infants are lacking.
- Abnormal ciliary orientation, with normal ultrastructure, has been noted in adult PCD cases.
Observation:
- Nasal brush biopsies were analyzed from eight healthy infants (mean age 13.1 months) to establish normal ciliary orientation.
- Two infants with PCD, exhibiting normal individual ciliary ultrastructure, were also studied.
- Normal infant ciliary orientation was determined to be a mean of 14.9 degrees (range 12.9-17.5).
Findings:
- Infants with PCD and normal ciliary ultrastructure showed significantly abnormal ciliary orientation (Case 1: 44.5°, Case 2: 24.4°).
- The established normal range for infant ciliary orientation aligns with previously reported adult ranges.
- These findings demonstrate that abnormal ciliary orientation can be a key indicator of PCD in infants.
Implications:
- Establishing normal ciliary orientation ranges in infants is vital for early PCD diagnosis.
- Measuring ciliary orientation should be integrated into the diagnostic workup for suspected PCD, particularly when ultrastructure is normal.
- This research aids in identifying PCD in newborns, enabling timely intervention and management.
Abstract:
Primary ciliary dyskinesia (PCD) syndrome associated with abnormal ciliary orientation but with normal ciliary ultrastructure has been described in adults, but there are no normal ranges for orientation in infants, despite the fact that half of all patients with PCD present in the new-born period. Nasal brush biopsies were obtained from eight infants (three males), mean age 13.1 months, range 7-23, in order to determine ciliary orientation. They had no upper or lower airway disease and normal organ arrangement and were undergoing general anaesthesia for other reasons. Two infants with typical PCD syndrome but normal ultrastructure of individual cilia also had orientation studies. In the eight normal subjects, a mean of 254 central pairs was examined, range 82-453. The mean ciliary orientation was 14.9 degrees, range 12.9-17.5. The two infants with PCD syndrome but normal ultrastructure of individual cilia had ciliary orientation of (Case 1) 44.5 degrees (range 10.6-64.5) in 218 central pairs; and on a second occasion, 28.9 degrees, (range 9.0-47.5) in 259 central pairs; for Case 2, 24.4 degrees, (range 13.1-38.4) in 196 central pairs. The normal range for ciliary orientation is similar in infants to that described in other work in adults. The two cases of phenotypic primary ciliary dyskinesia in the presence of normal ciliary ultrastructure but abnormal ciliary orientation in infants supports the contention that measurement of ciliary orientation should be part of the assessment of ciliary structure and function in cases of possible primary ciliary dyskinesia, in particular when the ultrastructure of individual cilia appear to be normal.