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High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
Published on: January 19, 2022
Characterising the nutritional status of children with primary ciliary dyskinesia
L V Marino1, A Harris2, C Johnstone3
1Department of Dietetics/Speech and Language Therapy, University Hospital Southampton NHS Foundation Trust, Southampton, UK; NIHR Southampton Biomedical Research Centre, University Hospital Southampton NHS Foundation Trust and University of Southampton, Southampton, UK.
Insights
Children with Primary Ciliary Dyskinesia (PCD) often have poor nutritional status and vitamin D insufficiency. Bioelectrical impedance spectroscopy (BIS) phase-angle may help identify at-risk children early.
Area of Science:
- Pediatric Pulmonology
- Nutritional Science
- Rare Genetic Disorders
Background:
- Primary ciliary dyskinesia (PCD) is a rare genetic disorder affecting mucociliary clearance and lung function.
- Limited data exists on the nutritional status of children with PCD, though low BMI z-scores correlate with poorer lung function (FEV1).
Purpose of the Study:
- To characterize the nutritional phenotype in a cohort of children with PCD.
- To investigate associations between nutritional status, lung function, and bioelectrical impedance spectroscopy (BIS) phase-angle.
- To assess vitamin D levels in children with PCD.
Main Methods:
- Prospective enrollment of 43 children (<16 years) with PCD from a single tertiary center.
- Collection of clinical phenotype and nutritional status data, including BIS phase-angle.
- Analysis of height-for-age z-score (HAZ), BMI z-score, and FEV1 z-score.
Main Results:
- A weak positive association was found between HAZ and FEV1 z-score (r=0.4, p=0.049).
- Low fat-free mass index (< -2 z-scores) was linked to lower BMI z-scores (p=0.0002).
- BIS phase-angle identified more children at nutritional risk (21%) compared to HAZ or BMI cut-offs alone (4.6-6.9%).
- High rates of vitamin D insufficiency (54%) and deficiency (26%) were observed in PCD patients.
Conclusions:
- Nutritional status and vitamin D levels are significant concerns in children with PCD.
- BIS phase-angle may offer an early and effective method for identifying children at nutritional risk.
- Findings support the need for monitoring vitamin D and developing nutritional interventions for children with PCD.
Introduction:
Primary ciliary dyskinesia (PCD) is a rare, heterogeneous genetic disorder where impaired mucociliary clearance is caused by dysfunctional motile cilia leading to bronchiectasis. There is limited evidence characterising the nutritional status of children with PCD, although lower body mass index (BMI) z-score has been associated with worse lung function (FEV1).
Methods:
All children (n = 43) with PCD, aged <16 years, from a single tertiary centre were prospectively enrolled. Information on clinical phenotype and nutritional status including bioelectrical impedance spectroscopy (BIS) phase-angle was collected.
Results:
There was a weak positive association between height-for-age z-score (HAZ) and FEV1 z-score (n = 28, r = 0.4, p = 0.049). Those with a low fat free mass index (<-2 z scores) had a lower BMI z score (-1.3 ± 1.2 vs. 0.8 ± 0.7, p = 0.0002). BIS phase angle identified more patients at nutritional risk than using moderate malnutrition cut-offs of either HAZ or BMI ≤ -2 z scores alone (21% vs. 4.6% vs. 6.9% respectively). PCD patients had a higher incidence of vitamin D insufficiency (<50 nmoL/L) (54%) and deficiency (<30 nmoL/L) (26%) than healthy children.
Conclusions:
We have characterised the nutritional phenotype of a cohort of children with PCD. Monitoring vitamin D levels is important in PCD patients. There is a weak association between lung function and nutritional status, and measures of BIS phase-angle. The use of BIS phase-angle may allow for early identification of at risk children and may therefore be of benefit for nutritional assessments in the clinical setting. These findings will help inform a future nutritional intervention strategy in children with PCD.
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