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High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
05:32

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

Published on: January 19, 2022

[A case of primary ciliary dyskinesia who had been treated as asthma]

Koa Hosoki1, Takao Fujisawa, Sawako Masuda

  • 1Department of Pediatrics, Mie National Hospital and Electron Microscopy Research Center, Mie University. hosokik@mie-m.hosp.go.jp

Arerugi = [Allergy]
|August 13, 2010
PubMed

Insights

Primary ciliary dyskinesia (PCD) can mimic asthma, leading to delayed diagnosis. Early investigation of PCD is crucial, especially with chronic respiratory symptoms and low nasal nitric oxide levels.

Area of Science:

  • Pulmonology
  • Genetics
  • Pediatrics

Background:

  • Primary ciliary dyskinesia (PCD) is a rare genetic disorder affecting cilia function, often presenting with respiratory symptoms that can be misdiagnosed.
  • Asthma is a common diagnosis for chronic respiratory conditions in children, potentially masking other underlying diseases like PCD.

Observation:

  • An 18-year-old female with a history of chronic productive cough, rhinorrhea, stridor, and recurrent otitis media was initially diagnosed with asthma.
  • Despite various asthma treatments, she exhibited persistent small airway obstruction and bronchiectasis on CT scan.
  • Low nasal nitric oxide (NO) levels (98 ppb) prompted further investigation for PCD.

Findings:

  • Electron microscopy revealed defects in the outer and inner dynein arms of nasal cilia.
  • Genetic analysis identified mutations in DNAH1 and DNAI1 genes, confirming the diagnosis of PCD.
  • The patient's situs solitus (normal organ arrangement) complicated the initial diagnosis.

Implications:

  • This case highlights the diagnostic challenges of PCD, particularly in the absence of situs inversus totalis.
  • Recurrent wheezing, chronic rhinosinusitis, otitis media, and bronchiectasis should raise suspicion for PCD.
  • Nasal NO measurement is a valuable, non-invasive tool for screening PCD.

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