Diagnosis of Primary Ciliary Dyskinesia

Myrofora Goutaki (Lead / Corresponding author), Amelia Shoemark

Research output: Contribution to journalReview articlepeer-review

20 Citations (Scopus)
52 Downloads (Pure)

Abstract

Primary ciliary dyskinesia (PCD) is a rare genetic disease leading to bronchiectasis in most patients. In addition to the lungs, PCD might affect multiple organ systems, and patients frequently have multiple clinical problems, which require multidisciplinary management. Diagnosis of PCD needs a combination of tests, many of which require expertise and expensive equipment. Measurement of nasal nitric oxide is the first test to consider when PCD is suspected. Detailed clinical history using available predictive scores in combination with information on functional and structural aspects of lung disease is important to identify which patients should be referred for further diagnostic testing.

Original languageEnglish
Pages (from-to)127-140
Number of pages14
JournalClinics in Chest Medicine
Volume43
Issue number1
Early online date27 Feb 2022
DOIs
Publication statusPublished - Mar 2022

Keywords

  • Bronchiectasis
  • Diagnosis
  • Management
  • Monitoring
  • Primary ciliary dyskinesia

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine

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