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Published on: June 12, 2020
Clinical features and management of children with primary ciliary dyskinesia in England
Bruna Rubbo1,2, Sunayna Best3, Robert Anthony Hirst4
1School of Clinical and Experimental Medicine, Faculty of Medicine, University of Southampton, Southampton, UK.
Insights
Children with primary ciliary dyskinesia (PCD) in England show poorer lung function compared to cystic fibrosis (CF) patients. Lower BMI in PCD children correlates with reduced lung function, highlighting the importance of nutritional status in management.
Area of Science:
- Pediatric Pulmonology
- Rare Diseases
- Genetics
Background:
- Primary ciliary dyskinesia (PCD) is a rare genetic disorder affecting cilia function.
- The National Health Service in England established a specialized service for children with PCD.
- Understanding the health status and lung function of children with PCD is crucial for effective management.
Purpose of the Study:
- To describe the health status of children managed by the English National Management PCD Service.
- To compare the lung function of children with PCD to those with cystic fibrosis (CF).
- To identify factors influencing lung function in children with PCD.
Main Methods:
- Multi-center service evaluation of the National Management PCD Service in England.
- Inclusion of 333 children with PCD reviewed in 2015.
- Comparison of lung function data with 2970 children with CF from the CF Registry.
Main Results:
- Children with PCD had significantly lower mean %predicted forced expiratory volume in one second (FEV1) (76.8%) compared to CF (85.0%).
- Lower FEV1 was observed in PCD patients up to age 15 and correlated with lower body mass index (BMI).
- Hearing impairment was common (approx. 50%), and 33% had positive respiratory cultures, frequently *Haemophilus influenzae*.
Conclusions:
- Children with PCD in England exhibit worse lung function than those with CF.
- Nutritional status, indicated by BMI, is a significant factor affecting lung function in PCD.
- Further research, including randomized controlled trials, is needed to optimize PCD management strategies.
Objective:
In England, the National Health Service commissioned a National Management Service for children with primary ciliary dyskinesia (PCD). The aims of this study were to describe the health of children seen in this Service and compare lung function to children with cystic fibrosis (CF).
Design:
Multi-centre service evaluation of the English National Management PCD Service.
Setting:
Four nationally commissioned PCD centres in England.
Patients:
333 children with PCD reviewed in the Service in 2015; lung function data were also compared with 2970 children with CF.
Results:
Median age at diagnosis for PCD was 2.6 years, significantly lower in children with situs inversus (1.0 vs 6.0 years, p<0.001). Compared with national data from the CF Registry, mean (SD) %predicted forced expiratory volume in one second (FEV1) was 76.8% in PCD (n=240) and 85.0% in CF, and FEV1 was lower in children with PCD up to the age of 15 years. Approximately half of children had some hearing impairment, with 26% requiring hearing aids. Children with a lower body mass index (BMI) had lower FEV1 (p<0.001). One-third of children had positive respiratory cultures at review, 54% of these grew Haemophilus influenzae.
Conclusions:
We provide evidence that children with PCD in England have worse lung function than those with CF. Nutritional status should be considered in PCD management, as those with a lower BMI have significantly lower FEV1. Hearing impairment is common but seems to improve with age. Well-designed and powered randomised controlled trials on management of PCD are needed to inform best clinical practice.
