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Updated: Jan 11, 2026

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
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High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia

Published on: January 19, 2022

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Bone Health in Young Individuals with Primary Ciliary Dyskinesia: Insights from a Comparison with Cystic Fibrosis and

René Gaupmann1, Klara Schmidthaler2, Aida Korajac3

  • 1Division of Paediatric Pulmonology, Allergology and Endocrinology, Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria, rene.gaupmann@meduniwien.ac.at.

Hormone Research in Paediatrics
|November 17, 2025
PubMed

Insights

Young individuals with primary ciliary dyskinesia (PCD) show compromised bone health, specifically altered tibial bone microarchitecture, despite normal bone mineral density. This highlights bone health as a research priority in PCD.

Area of Science:

  • Orthopedics
  • Pediatrics
  • Pulmonology

Background:

  • Bone health screening is standard in cystic fibrosis (CF).
  • Bone quality in primary ciliary dyskinesia (PCD) is largely uncharacterized.
  • This study investigates the bone phenotype in PCD.

Purpose of the Study:

  • To evaluate the bone phenotype in young individuals with PCD.
  • To compare bone health in PCD to healthy controls and individuals with CF.
  • To explore associations between bone health, BMI, lean mass, and lung function in PCD.

Main Methods:

  • Cross-sectional study of 15 individuals with PCD and 45 with CF (aged 12-20).
  • Assessed bone mineral density (BMD) via DXA and tibial bone microarchitecture via HR-pQCT.
  • Compared measures to age- and sex-matched healthy controls.

Main Results:

  • No significant differences in BMD between PCD and controls.
  • HR-pQCT revealed reduced tibial cortical thickness, area, and BMD in PCD compared to controls.
  • PCD bone phenotype resembled pancreatic-insufficient CF; cortical deficits in PCD persisted after adjusting for BMI/lean mass.

Conclusions:

  • Skeletal health is compromised in young people with PCD.
  • Altered tibial bone microarchitecture suggests intrinsic disease-related changes.
  • Bone health is a research priority in PCD, requiring larger studies.
Abstract

Keywords:
Bone mineral densityBronchiectasisComorbidityOsteoporosisPaediatric dataset

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