Kuehni, Claudia E; Lucas, Jane S (2017). Diagnosis of primary ciliary dyskinesia: summary of the ERS Task Force report. Breathe, 13(3), pp. 166-178. European Respiratory Society 10.1183/20734735.008517
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KEY POINTS
Primary ciliary dyskinesia (PCD) is a genetically and clinically heterogeneous disease characterised by abnormal motile ciliary function.There is no "gold standard" diagnostic test for PCD.The European Respiratory Society (ERS) Task Force Guidelines for diagnosing PCD recommend that patients should be referred for diagnostic testing if they have several of the following features: persistent wet cough; situs anomalies; congenital cardiac defects; persistent rhinitis; chronic middle ear disease with or without hearing loss; or a history, in term infants, of neonatal upper and lower respiratory symptoms or neonatal intensive care admission.The ERS Task Force recommends that patients should be investigated in a specialist PCD centre with access to a range of complementary tests: nasal nitric oxide, high-speed video microscopy analysis and transmission electron microscopy. Additional tests including immunofluorescence labelling of ciliary proteins and genetic testing may also help determine the diagnosis.
EDUCATIONAL AIMS
This article is intended for primary and secondary care physicians interested in primary ciliary dyskinesia (PCD), i.e. those who identify patients for testing, and those involved in diagnosing and managing PCD patients. It aims: to inform readers about the new European Respiratory Society Task Force Guidelines for diagnosing patients with PCDto enable primary and secondary care physicians to: identify patients who need diagnostic testing; understand the diagnostic tests that their patients will undergo, the results of the tests and their limitations; and ensure that appropriate care is subsequently delivered.
Item Type: |
Journal Article (Review Article) |
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Division/Institute: |
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine 04 Faculty of Medicine > Pre-clinic Human Medicine > Institute of Social and Preventive Medicine (ISPM) |
UniBE Contributor: |
Kühni, Claudia |
Subjects: |
600 Technology > 610 Medicine & health 300 Social sciences, sociology & anthropology > 360 Social problems & social services |
ISSN: |
1810-6838 |
Publisher: |
European Respiratory Society |
Language: |
English |
Submitter: |
Anette van Dorland |
Date Deposited: |
31 Oct 2017 13:55 |
Last Modified: |
05 Dec 2022 15:08 |
Publisher DOI: |
10.1183/20734735.008517 |
PubMed ID: |
28894478 |
BORIS DOI: |
10.7892/boris.106609 |
URI: |
https://boris.unibe.ch/id/eprint/106609 |
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