title: Diagnosis of primary ciliary dyskinesia: potential options for resource-limited countries.
abstract: Primary ciliary dyskinesia is a genetic disease of ciliary function leading to chronic upper and lower respiratory tract symptoms. The diagnosis is frequently overlooked because the symptoms are nonspecific and the knowledge about the disease in the primary care setting is poor. Additionally, none of the available tests is accurate enough to be used in isolation. These tests are expensive, and need sophisticated equipment and expertise to analyse and interpret results; diagnosis is therefore only available at highly specialised centres. The diagnosis is particularly challenging in countries with limited resources due to the lack of such costly equipment and expertise.In this review, we discuss the importance of early and accurate diagnosis especially for countries where the disease is clinically prevalent but diagnostic tests are lacking. We review the diagnostic tests available in specialised centres (nasal nitric oxide, high-speed video microscopy, transmission electron microscopy, immunofluorescence and genetics). We then consider modifications that might be considered in less well-resourced countries whilst maintaining acceptable accuracy.
authors.affiliation: Pediatric Dept, Makassed Hospital, East Jerusalem, Palestine.|Academic Unit of Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.
authors.forename: Nisreen
authors.initials: N
authors.lastname: Rumman
authors.affiliation: Academic Unit of Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.|Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
authors.forename: Claire
authors.initials: C
authors.lastname: Jackson
authors.affiliation: Academic Unit of Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.|Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
authors.forename: Samuel
authors.initials: S
authors.lastname: Collins
authors.affiliation: Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
authors.forename: Patricia
authors.initials: P
authors.lastname: Goggin
authors.affiliation: Academic Unit of Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.|Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
authors.forename: Janice
authors.initials: J
authors.lastname: Coles
authors.affiliation: Academic Unit of Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.|Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
authors.forename: Jane S
authors.initials: JS
authors.lastname: Lucas
mesh_terms: D003362:Cost-Benefit Analysis; D003906:Developing Countries / Q000191:economics*; D003948:Diagnostic Techniques, Respiratory System / Q000191:economics*; D042241:Early Diagnosis; D017048:Health Care Costs; D006297:Health Services Accessibility / Q000191:economics*; D006801:Humans; D007619:Kartagener Syndrome / Q000175:diagnosis* / Q000191:economics* / Q000235:genetics / Q000628:therapy; D009313:National Health Programs / Q000191:economics*; D011237:Predictive Value of Tests; D011379:Prognosis; D015203:Reproducibility of Results