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High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
Published on: January 19, 2022
Multicenter analysis of body mass index, lung function, and sputum microbiology in primary ciliary dyskinesia
Marco Maglione1, Andrew Bush, Kim G Nielsen
1Department of Pediatrics, Federico II University, Naples, Italy.
Insights
This study found that early referral to a primary ciliary dyskinesia (PCD) center does not improve lung function or BMI. Children with PCD show stable BMI and spirometry over time, even with Pseudomonas aeruginosa infections.
Area of Science:
- Pediatric Pulmonology
- Rare Diseases
- Clinical Research
Background:
- Longitudinal data on body mass index (BMI) and spirometry in primary ciliary dyskinesia (PCD) are lacking.
- Simultaneous assessment of BMI and pulmonary function in PCD has not been previously studied.
Purpose of the Study:
- To longitudinally assess body mass index (BMI) and spirometry in children and adolescents with primary ciliary dyskinesia (PCD).
- To investigate the impact of early referral and common respiratory pathogens on disease progression in PCD.
Main Methods:
- 158 children and adolescents with PCD from UK, Italy, and Denmark underwent annual BMI and spirometry measurements.
- Data were analyzed over 2, 4, and 6-year periods, with sputum pathogen analysis.
- Comparison of outcomes based on referral age (preschool vs. ≥6 years) and pathogen presence.
Main Results:
- Mean Z scores for initial BMI, FEV1, FVC, and FEF(25-75) were 0.01, -1.37, -0.84, and -1.68, respectively.
- No significant differences in BMI or spirometry trajectories were observed over time or between referral age groups.
- High prevalence of Pseudomonas aeruginosa (37%) and Haemophilus influenzae (65%) was noted, but neither impacted spirometry or BMI trends.
Conclusions:
- Early referral to a PCD center does not confer better spirometry or BMI outcomes.
- Children with PCD receiving centralized care demonstrate stable BMI and spirometry in the medium term.
- Pseudomonas aeruginosa infection did not affect medium-term spirometry or BMI evolution, highlighting the need for long-term monitoring and risk stratification.
Background:
No studies longitudinally, simultaneously assessed body mass index (BMI) and spirometry in primary ciliary dyskinesia (PCD).
Methods:
We determined BMI and spirometry in 158 PCD children and adolescents from London, UK (n = 75), Naples, Italy (n = 23) and Copenhagen, Denmark (n = 60) at first presentation and during follow-up. Annual BMI and spirometry were prospectively collected and analyzed over blocks of 2, 4, and 6 consecutive years. Sputum pathogens were recorded.
Results:
Age at first spirometry was 8.7 years (range, 4.2-17.4). Mean Z scores of first measured BMI, FEV1, FVC, and FEF(25-75) were 0.01, -1.37, -0.84, and -1.68, respectively. First spirometry was not more frequently impaired in patients referred at age ≥6 years than in those referred at preschool age (P = 0.13). There were no differences in slopes for BMI, FEV1, FVC, or FEF(25-75) over any time block. H. influenzae was the most common pathogen, isolated at least once in 65% of patients. P. aeruginosa was found in 58 subjects (37%) of whom 8 (5%) were chronically infected. Neither pathogens was associated with spirometry changes.
Conclusions:
Preschool referral to a PCD center was not associated with better spirometry or BMI. PCD children and adolescents receiving centralized care show steady BMI and spirometry during medium term follow-up. There was a high prevalence of Pseudomonas aeruginosa infection, but the evolution of spirometry or BMI was not affected by this microorganism in medium term. Despite our longitudinal analysis showed no differences between the three centers, the assessment of spirometry and BMI over time represents a quality improvement tool. Future studies are needed to highlight the role of spirometry and BMI in long term PCD management and identify subgroups of patients with a higher risk of early lung failure or nutritional problems.
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