Nutrition and growth of primary ciliary dyskinesia patients: a systematic review.
Clinical Snapshot
PICO Framework
| P — Population | Patients with primary ciliary dyskinesia (PCD) of all ages |
| I — Intervention | Not applicable (observational systematic review) |
| C — Comparator | Healthy controls or reference populations (where reported) |
| O — Outcomes | Growth parameters (height, weight, BMI z-scores), nutritional status, prevalence of malnutrition, vitamin deficiencies, and nutritional intake |
Bottom Line
This systematic review of 50 studies reveals significant nutritional challenges in PCD patients, with undernutrition affecting 4-11% and vitamin D insufficiency present in over half of patients. However, substantial variability between studies limits definitive conclusions. The wide ranges in prevalence estimates (underweight 0-50%, overweight 3-25%) suggest methodological inconsistencies and highlight the need for standardised nutritional assessment protocols. The alarming rates of vitamin D deficiency (18-26%) and the scarcity of nutritional intake data (only 3 studies) underscore critical gaps in PCD management. While the evidence supports routine nutritional screening and vitamin D monitoring in PCD patients, the heterogeneity of findings prevents specific therapeutic recommendations. Australian clinicians managing PCD should implement systematic nutritional assessment and consider vitamin D supplementation, while advocating for standardised nutritional research protocols in this rare disease population.
Key Findings
P Value: Not applicable (descriptive systematic review)
Effect Size: Undernutrition prevalence 4-11%, underweight 0-50%, overweight/obesity 3-25%
Primary Outcome: Prevalence of nutritional problems in PCD patients
Nnt Or Sensitivity: Vitamin D insufficiency prevalence 54%, deficiency 18-26%
Confidence Interval: Not reported (qualitative synthesis only)
Clinical Application
Routine nutritional screening and vitamin D monitoring feasible in specialist respiratory clinics Relevant to Australian PCD centres; vitamin D deficiency monitoring aligns with RACGP guidelines; nutritional support may require dietitian referral under Medicare Australian patients with confirmed PCD diagnosis across all age groups
Abstract
BACKGROUND: Growth, nutritional status and intake can be crucial for the management and prognosis of chronic lung diseases, including primary ciliary dyskinesia (PCD); yet research in PCD is scarce. In this study, we systematically reviewed the existing literature and summarised the evidence on growth, nutritional status and intake of patients with PCD. METHODS: We conducted searches in Medline, Embase, Scopus and PubMed limited to the past 20 years, due to changes in the diagnosis of PCD. Eligible studies included cross-sectional, case-control and prospective studies, and case series with >5 people that reported on the growth, nutritional status or intake of patients with PCD. We performed additional searches through reference list checking and in medRxiv for relevant preprints. The review was registered in PROSPERO (CRD420251065699). RESULTS: 50 studies were included in the qualitative synthesis. We observed variability in growth-related outcomes, with some studies reporting reduced z-score for height, body weight or BMI, while others reported no growth differences in patients with PCD. The prevalence of undernutrition ranged from 4 to 11%; underweight ranged from 0 to 50%. Overweight and obesity estimates ranged from 3 to 25%. The prevalence of vitamin D insufficiency was 54%, while deficiency was reported in 18-26% of study participants. Only three studies reported on the nutritional intake of patients with PCD. DISCUSSION: We observed considerable variability in growth-related outcomes and a lack of nutritional intake-related data in patients with PCD. The findings we noted related to malnutrition and vitamin D insufficiency/deficiency are alarming and warrant further investigation.
References
- 1.Karavasiloglou, N., Gkatzou, V., Fernandez-Rodriguez, A., Schwartz, V., & Goutaki, M. (2026). Nutrition and growth of primary ciliary dyskinesia patients: a systematic review. European Respiratory Review, 35(160), Article 220804. https://doi.org/10.3390/nu14040804
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