Primary ciliary dyskinesia: Meeting the challenges of diagnosis in South Africa
Primary ciliary dyskinesia (PCD) is an inherited ciliopathy that results in impaired mucous clearance and affects primarily the respiratory tract, causing upper airway disease, bronchial inflammation and bronchiectasis. The prevalence of PCD in low- and middle-income settings, including South A...
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| Format: | Article |
| Language: | English |
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South African Medical Association
2024-08-01
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| Series: | South African Medical Journal |
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| Online Access: | https://samajournals.co.za/index.php/samj/article/view/2069 |
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| author | Z Dangor M Birkhead C Verwey D Gray A Vanker L Githinji A Goga R Masekela M Zampoli |
| author_facet | Z Dangor M Birkhead C Verwey D Gray A Vanker L Githinji A Goga R Masekela M Zampoli |
| author_sort | Z Dangor |
| collection | DOAJ |
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Primary ciliary dyskinesia (PCD) is an inherited ciliopathy that results in impaired mucous clearance and affects primarily the respiratory tract, causing upper airway disease, bronchial inflammation and bronchiectasis. The prevalence of PCD in low- and middle-income settings, including South Africa (SA), is unknown, largely owing to challenges with diagnosis, and identifying children or adults with PCD is challenging in a setting with a high prevalence of other infectious diseases, including lower respiratory tract infections and tuberculosis. No single test is diagnostic of PCD, and while some tests are costly, others are labour intensive and require highly specialised laboratory expertise. In the SA setting, awareness and opportunities for the diagnosis of PCD need to be created. In this commentary, we provide a pragmatic approach to identifying which children and adults require further investigations for PCD using a range of diagnostic tests or tools that are available. Furthermore, we recommend that designated centres of expertise for PCD diagnosis are created in SA. This would be an important step towards improving accessibility of diagnostic tests and developing local expertise to improving PCD diagnosis, especially in early childhood, to prevent long-term irreversible respiratory sequelae.
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| format | Article |
| id | doaj-art-ff693d1147824b97bb8b855a2e5f023e |
| institution | Kabale University |
| issn | 0256-9574 2078-5135 |
| language | English |
| publishDate | 2024-08-01 |
| publisher | South African Medical Association |
| record_format | Article |
| series | South African Medical Journal |
| spelling | doaj-art-ff693d1147824b97bb8b855a2e5f023e2025-02-10T12:25:45ZengSouth African Medical AssociationSouth African Medical Journal0256-95742078-51352024-08-01114810.7196/SAMJ.2024.v114i8.2069Primary ciliary dyskinesia: Meeting the challenges of diagnosis in South AfricaZ Dangor0M Birkhead1C Verwey2D Gray3A Vanker4L Githinji5A Goga6R Masekela7M Zampoli8Vaccines and Infectious Diseases Analytics Research Unit, University of the Witwatersrand, Johannesburg, South Africa; Department of Paediatrics and Child Health, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South AfricaCentre for Emerging Zoonotic and Parasitic Diseases, National Institute for Communicable Diseases – a division of the National Health Laboratory Service, Johannesburg, South AfricaVaccines and Infectious Diseases Analytics Research Unit, University of the Witwatersrand, Johannesburg, South Africa; Department of Paediatrics and Child Health, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South AfricaDepartment of Paediatrics and Child Health, Faculty of Health Sciences, University of Cape Town, South AfricaDepartment of Paediatrics and Child Health, Faculty of Health Sciences, University of Cape Town, South AfricaDepartment of Paediatrics, Faculty of Health Sciences, Nelson Mandela University, Gqeberha, South AfricaHIV and other Infectious Diseases Research Unit, South African Medical Research Council, Cape Town, South Africa; Department of Paediatrics and Child Health, Faculty of Health Sciences, University of Pretoria, South Africa Department of Paediatrics and Child Health, School of Clinical Medicine, College of Health Sciences, University of KwaZulu-Natal, Durban, South Africa; Africa Health Research Institute, Durban, South AfricaDepartment of Paediatrics and Child Health, Faculty of Health Sciences, University of Cape Town, South Africa Primary ciliary dyskinesia (PCD) is an inherited ciliopathy that results in impaired mucous clearance and affects primarily the respiratory tract, causing upper airway disease, bronchial inflammation and bronchiectasis. The prevalence of PCD in low- and middle-income settings, including South Africa (SA), is unknown, largely owing to challenges with diagnosis, and identifying children or adults with PCD is challenging in a setting with a high prevalence of other infectious diseases, including lower respiratory tract infections and tuberculosis. No single test is diagnostic of PCD, and while some tests are costly, others are labour intensive and require highly specialised laboratory expertise. In the SA setting, awareness and opportunities for the diagnosis of PCD need to be created. In this commentary, we provide a pragmatic approach to identifying which children and adults require further investigations for PCD using a range of diagnostic tests or tools that are available. Furthermore, we recommend that designated centres of expertise for PCD diagnosis are created in SA. This would be an important step towards improving accessibility of diagnostic tests and developing local expertise to improving PCD diagnosis, especially in early childhood, to prevent long-term irreversible respiratory sequelae. https://samajournals.co.za/index.php/samj/article/view/2069primary ciliary dyskinesia, PCD, diagnosis |
| spellingShingle | Z Dangor M Birkhead C Verwey D Gray A Vanker L Githinji A Goga R Masekela M Zampoli Primary ciliary dyskinesia: Meeting the challenges of diagnosis in South Africa South African Medical Journal primary ciliary dyskinesia, PCD, diagnosis |
| title | Primary ciliary dyskinesia: Meeting the challenges of diagnosis in South Africa |
| title_full | Primary ciliary dyskinesia: Meeting the challenges of diagnosis in South Africa |
| title_fullStr | Primary ciliary dyskinesia: Meeting the challenges of diagnosis in South Africa |
| title_full_unstemmed | Primary ciliary dyskinesia: Meeting the challenges of diagnosis in South Africa |
| title_short | Primary ciliary dyskinesia: Meeting the challenges of diagnosis in South Africa |
| title_sort | primary ciliary dyskinesia meeting the challenges of diagnosis in south africa |
| topic | primary ciliary dyskinesia, PCD, diagnosis |
| url | https://samajournals.co.za/index.php/samj/article/view/2069 |
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