Primary ciliary dyskinesia: Meeting the challenges of diagnosis in South Africa

被引:0
|
作者
Dangor, Z. [1 ,2 ]
Birkhead, M. [3 ]
Verwey, C. [1 ,2 ]
Gray, D. M. [4 ]
Vanker, A. [4 ]
Githinji, L. [5 ]
Goga, A. [6 ,7 ]
Masekela, R. [8 ,9 ]
Zampoli, M. [4 ]
机构
[1] Univ Witwatersrand, Vaccines & Infect Dis Analyt Res Unit, Johannesburg, South Africa
[2] Univ Witwatersrand, Fac Hlth Sci, Dept Paediat & Child Hlth, Johannesburg, South Africa
[3] Natl Inst Communicable Dis, Ctr Emerging Zoonot & Parasit Dis, Johannesburg, South Africa
[4] Univ Cape Town, Fac Hlth Sci, Dept Paediat & Child Hlth, Cape Town, South Africa
[5] Nelson Mandela Univ, Fac Hlth Sci, Dept Paediat, Gqeberha, South Africa
[6] South African Med Res Council, HIV & Other Infect Dis Res Unit, Cape Town, South Africa
[7] Univ Pretoria, Fac Hlth Sci, Dept Paediat & Child Hlth, Pretoria, South Africa
[8] Univ KwaZulu Natal, Coll Hlth Sci, Sch Clin Med, Dept Paediat & Child Hlth, Durban, South Africa
[9] Africa Hlth Res Inst, Durban, South Africa
来源
SAMJ SOUTH AFRICAN MEDICAL JOURNAL | 2024年 / 114卷 / 08期
关键词
ciliary dyskinesia; PCD; MOTILE CILIA; PICADAR;
D O I
10.7196/SAMJ.2024.v114i8.2069
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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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