Building capacity for diagnosis of Primary Ciliary Dyskinesia in South Africa: a descriptive study

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dc.contributor.advisorZampoli, Marco
dc.contributor.advisorGray Diane
dc.contributor.authorEze, Joy Nkiru
dc.date.accessioned2025-07-23T07:09:36Z
dc.date.available2025-07-23T07:09:36Z
dc.date.issued2025
dc.date.updated2025-07-23T06:57:24Z
dc.description.abstractBackground: Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by abnormal cilia motility. Diagnostic capacity for PCD in sub-Saharan Africa (sSA) is limited; and incidence of PCD and genotype in sSA is unknown. Objectives: To determine the prevalence of PCD in children and adults with suspected PCD using a range of specialized diagnostic tests; and inform the development of local guidelines for PCD diagnosis. Methods: A prospective cross-sectional study in Cape Town, SA. Diagnostic tests performed included: nasal nitric oxide (nNO), nasal brushings for video microscopy of ciliary beat; transmission electron microscopy (TEM), immunofluorescence (IF) of ciliary protein antigens and genotyping. Results: Thirty-three participants (31 children; 2 adults) were enrolled July 2022 to July 2023 [median (IQR) age 5.6 years (3.8, 8.2); 16 (49%) males; 22 (66.7%) non-Caucasian]. The most frequent clinical characteristics were upper respiratory disease with or without hearing impairment (91%, n=30), chronic wet cough (73%, n=24), bronchiectasis (36%, n=12), neonatal respiratory distress (48%, n= 16), and situs inversus (36%, n=12); 7/17 (41%) participants recorded nNO <77nl/. Ciliary beat pattern and TEM were abnormal in 55% (n=18) and 6.1% (n=2) of the participants respectively; PCD was confirmed genetically in 5/24 (21%), of which two had abnormal IF. Two unrelated black Africans were homozygous for the same pathogenic variant in DNAAF3. Conclusion: Using a range of diagnostic modalities, the study has identified PCD cases who would have otherwise been missed or incorrectly diagnosed
dc.identifier.apacitationEze, J. N. (2025). <i>Building capacity for diagnosis of Primary Ciliary Dyskinesia in South Africa: a descriptive study</i>. (). ,Faculty of Health Sciences ,Department of Paediatrics and Child Health. Retrieved from http://hdl.handle.net/11427/41542en_ZA
dc.identifier.chicagocitationEze, Joy Nkiru. <i>"Building capacity for diagnosis of Primary Ciliary Dyskinesia in South Africa: a descriptive study."</i> ., ,Faculty of Health Sciences ,Department of Paediatrics and Child Health, 2025. http://hdl.handle.net/11427/41542en_ZA
dc.identifier.citationEze, J.N. 2025. Building capacity for diagnosis of Primary Ciliary Dyskinesia in South Africa: a descriptive study. . ,Faculty of Health Sciences ,Department of Paediatrics and Child Health. http://hdl.handle.net/11427/41542en_ZA
dc.identifier.ris TY - Thesis / Dissertation AU - Eze, Joy Nkiru AB - Background: Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by abnormal cilia motility. Diagnostic capacity for PCD in sub-Saharan Africa (sSA) is limited; and incidence of PCD and genotype in sSA is unknown. Objectives: To determine the prevalence of PCD in children and adults with suspected PCD using a range of specialized diagnostic tests; and inform the development of local guidelines for PCD diagnosis. Methods: A prospective cross-sectional study in Cape Town, SA. Diagnostic tests performed included: nasal nitric oxide (nNO), nasal brushings for video microscopy of ciliary beat; transmission electron microscopy (TEM), immunofluorescence (IF) of ciliary protein antigens and genotyping. Results: Thirty-three participants (31 children; 2 adults) were enrolled July 2022 to July 2023 [median (IQR) age 5.6 years (3.8, 8.2); 16 (49%) males; 22 (66.7%) non-Caucasian]. The most frequent clinical characteristics were upper respiratory disease with or without hearing impairment (91%, n=30), chronic wet cough (73%, n=24), bronchiectasis (36%, n=12), neonatal respiratory distress (48%, n= 16), and situs inversus (36%, n=12); 7/17 (41%) participants recorded nNO <77nl/. Ciliary beat pattern and TEM were abnormal in 55% (n=18) and 6.1% (n=2) of the participants respectively; PCD was confirmed genetically in 5/24 (21%), of which two had abnormal IF. Two unrelated black Africans were homozygous for the same pathogenic variant in DNAAF3. Conclusion: Using a range of diagnostic modalities, the study has identified PCD cases who would have otherwise been missed or incorrectly diagnosed DA - 2025 DB - OpenUCT DP - University of Cape Town KW - paediatric pulmonology LK - https://open.uct.ac.za PY - 2025 T1 - Building capacity for diagnosis of Primary Ciliary Dyskinesia in South Africa: a descriptive study TI - Building capacity for diagnosis of Primary Ciliary Dyskinesia in South Africa: a descriptive study UR - http://hdl.handle.net/11427/41542 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/41542
dc.identifier.vancouvercitationEze JN. Building capacity for diagnosis of Primary Ciliary Dyskinesia in South Africa: a descriptive study. []. ,Faculty of Health Sciences ,Department of Paediatrics and Child Health, 2025 [cited yyyy month dd]. Available from: http://hdl.handle.net/11427/41542en_ZA
dc.language.rfc3066eng
dc.publisher.departmentDepartment of Paediatrics and Child Health
dc.publisher.facultyFaculty of Health Sciences
dc.subjectpaediatric pulmonology
dc.titleBuilding capacity for diagnosis of Primary Ciliary Dyskinesia in South Africa: a descriptive study
dc.typeThesis / Dissertation
dc.type.qualificationlevelMasters
dc.type.qualificationlevelMPhil
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