Diagnostic Methods in Primary Ciliary Dyskinesia

Jane S Lucas; Tamara Paff; Patricia Goggin; Eric Haarman

doi:10.1016/j.prrv.2015.07.017

Diagnostic Methods in Primary Ciliary Dyskinesia

Paediatr Respir Rev. 2016 Mar:18:8-17. doi: 10.1016/j.prrv.2015.07.017. Epub 2015 Aug 19.

Authors

Jane S Lucas¹, Tamara Paff², Patricia Goggin³, Eric Haarman⁴

Affiliations

¹ Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK; Academic Unit of Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK. Electronic address: [email protected].
² Department of Pediatric Pulmonology, VU University Medical Center, Amsterdam, the Netherlands; Department of Pulmonary Diseases, VU University Medical Center, Amsterdam, the Netherlands.
³ Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK; Academic Unit of Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
⁴ Department of Pediatric Pulmonology, VU University Medical Center, Amsterdam, the Netherlands.

PMID: 26362507
DOI: 10.1016/j.prrv.2015.07.017

Abstract

Diagnosing primary ciliary dyskinesia is difficult. With no reference standard, a combination of tests is needed; most tests require expensive equipment and specialist scientists. We review the advances in diagnostic testing over the past hundred years, with emphasis on recent advances. We particularly focus on use of high-speed video analysis, transmission electron microscopy, nasal nitric oxide and genetic testing. We discuss the international efforts that are in place to advance the evidence base for diagnostic tests.

Keywords: Diagnosis; Electron microscopy; Genetics; High speed video analysis; Nitric oxide; Primary ciliary dyskinesia.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Diagnostic Techniques, Respiratory System*
Genetic Testing / methods*
Humans
Kartagener Syndrome / diagnosis*
Reproducibility of Results