Diagnostic Methods in Primary Ciliary Dyskinesia. (March 2016)

• Record Type: Journal Article
• Authors: Lucas, Jane S.; Paff, Tamara; Goggin, Patricia; Haarman, Eric
• Is Part Of: Paediatric respiratory reviews. Volume 18(2016)
• Page Start: 8
• Page End: 17
• Publication Date: 2016-03
• Subjects: Primary ciliary dyskinesia -- Diagnosis -- High speed video analysis -- Electron microscopy -- Genetics -- Nitric oxide; Pediatric respiratory diseases -- Periodicals; Respiratory organs -- Diseases -- Periodicals; Respiratory Tract Diseases -- Periodicals; Respiratory Therapy -- Periodicals; Child -- Periodicals; Appareil respiratoire -- Infections, chez l'enfant -- Périodiques; Appareil respiratoire -- Maladies, chez l'enfant -- Périodiques; 618.922
• DOI: 10.1016/j.prrv.2015.07.017
• Languages: English
• ISSNs: 1526-0542

Abstract

Summary: 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.