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Comparison of Longitudinal Outcomes in Children with Primary Ciliary Dyskinesia and Cystic Fibrosis

BreAnna Kinghorn1,2, Margaret Rosenfeld1,2, Erin Sullivan2

  • 1Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington.

Annals of the American Thoracic Society
|October 9, 2024
PubMed

Insights

Primary ciliary dyskinesia (PCD) and cystic fibrosis (CF) lung function are similar in childhood, contrary to prior beliefs. Children with PCD, especially those with inner dynein arm/microtubular defects, face significant lung function decline, necessitating new treatments.

Area of Science:

  • Respiratory Medicine
  • Genetics
  • Pediatrics

Background:

  • Primary ciliary dyskinesia (PCD) and cystic fibrosis (CF) are genetic disorders affecting mucociliary clearance and leading to progressive lung disease.
  • PCD is often perceived as less severe than CF in childhood, but evidence is limited.
  • Specific genetic variants in PCD, such as those in CCDC39 and CCDC40 causing inner dynein arm/microtubular defects (IDA/MTD), are linked to more severe disease presentations.

Purpose of the Study:

  • To compare longitudinal health outcomes between children diagnosed with PCD and CF.
  • To investigate if children with PCD and IDA/MTD defects exhibit poorer lung function but better nutritional status compared to CF patients with genotypes associated with pancreatic insufficiency.

Main Methods:

  • A prospective, multicenter observational study enrolled children with PCD.
  • PCD patients were matched with CF patients from the Cystic Fibrosis Foundation Patient Registry based on demographics and study visit year.
  • Longitudinal outcomes up to age 17 were analyzed using mixed-effects models, comparing disease groups and severity subclasses (PCD-IDA/MTD vs. other PCD; CF-minimal vs. residual function).

Main Results:

  • The study included 136 children with PCD (40 IDA/MTD) and 476 with CF (446 minimal function).
  • PCD patients showed similar or lower lung function (forced expiratory volume in 1 second % predicted) compared to CF patients before age 14.
  • Children with PCD-IDA/MTD had significantly lower lung function by age 10 and 14 compared to CF patients with minimal function genotypes, with similar body mass index.
  • Prevalence of Pseudomonas aeruginosa infection was higher in CF (67%) than PCD (27%), with no difference between PCD subgroups.

Conclusions:

  • Contrary to common assumptions, children with PCD do not necessarily have milder lung disease than those with CF during childhood.
  • PCD patients with IDA/MTD defects experience substantial lung function deficits, comparable to or worse than CF patients.
  • There is an urgent need for updated clinical guidelines and novel therapeutic strategies to improve outcomes for children with PCD.

Keywords:
cystic fibrosislung functionprimary ciliary dyskinesia

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