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Impaired Growth during Childhood in Patients with Primary Ciliary Dyskinesia

Tamara Svobodová1, Jana Djakow1, Daniela Zemková1

  • 1Department of Pediatrics, 2nd Faculty of Medicine, University Hospital Motol, Charles University, 150 06 Prague, Czech Republic.

International Journal of Endocrinology
|January 24, 2014
PubMed

Insights

Primary ciliary dyskinesia (PCD) causes chronic respiratory infections and significant growth delays in children. This study found children with PCD experience progressive height deterioration, particularly those with DNAH5 or DNAI1 mutations.

Area of Science:

  • Pediatrics
  • Genetics
  • Pulmonology

Background:

  • Primary ciliary dyskinesia (PCD) is a genetic disorder characterized by impaired ciliary function.
  • PCD leads to recurrent respiratory infections, chronic inflammation, and potential development of chronic pulmonary disease and bronchiectasis.
  • Growth delay and nutritional deficits are potential complications of chronic childhood illnesses.

Purpose of the Study:

  • To analyze longitudinal growth patterns (height and BMI) in children and young adults diagnosed with Primary Ciliary Dyskinesia (PCD).
  • To investigate the relationship between PCD, genetic mutations (DNAH5, DNAI1), and growth deterioration.
  • To determine if nutritional deficits contribute to growth delay in PCD patients.

Main Methods:

  • Longitudinal data analysis of body length/height and BMI in 29 children and young adults with PCD (ages 1.5-24 years).
  • Diagnosis ages ranged from 0.5-17 years.
  • Genetic analysis was performed on a subset of patients, with 10 carrying mutations in DNAH5 or DNAI1.

Main Results:

  • Children with PCD showed a progressive decrease in height standard deviation scores (SDS) from age 1 to 13 years (P=0.01 to P=0.005).
  • Height deterioration was more pronounced in patients with DNAH5 or DNAI1 mutations.
  • Body Mass Index (BMI) remained within population standards, suggesting growth delay is not due to nutritional deficits.

Conclusions:

  • Primary ciliary dyskinesia (PCD) is associated with significant growth deterioration during childhood.
  • The observed growth delay in PCD is likely a consequence of chronic illness rather than nutritional deficits.
  • Genetic factors, specifically DNAH5 and DNAI1 mutations, may influence the severity of growth impairment in PCD.

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