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Building capacity for diagnosis of Primary Ciliary Dyskinesia in South Africa: a descriptive study
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 ad...
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| Format: | Thesis |
| Language: | English |
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Department of Paediatrics and Child Health
2025
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| _version_ | 1867613206312124416 |
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| access_status_str | Open Access |
| author | Eze, Joy Nkiru |
| author2 | Zampoli, Marco |
| author_browse | Eze, Joy Nkiru Zampoli, Marco |
| author_facet | Zampoli, Marco Eze, Joy Nkiru |
| author_sort | Eze, Joy Nkiru |
| collection | Thesis |
| description | 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 |
| format | Thesis |
| id | oai:open.uct.ac.za:11427/41542 |
| institution | University of Cape Town (South Africa) |
| language | eng |
| last_indexed | 2026-06-10T12:32:27.580Z |
| license_str | Not specified — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UCTD — University of Cape Town Open Access Repository |
| publishDate | 2025 |
| publishDateRange | 2025 |
| publishDateSort | 2025 |
| publisher | Department of Paediatrics and Child Health |
| publisherStr | Department of Paediatrics and Child Health |
| record_format | dspace |
| source_str | UCTD — University of Cape Town Open Access Repository |
| spelling | oai:open.uct.ac.za:11427/41542 Building capacity for diagnosis of Primary Ciliary Dyskinesia in South Africa: a descriptive study Eze, Joy Nkiru Zampoli, Marco Gray Diane paediatric pulmonology 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 2025-07-23T07:09:36Z 2025-07-23T07:09:36Z 2025 2025-07-23T06:57:24Z Thesis / Dissertation Masters MPhil http://hdl.handle.net/11427/41542 eng application/pdf Department of Paediatrics and Child Health Faculty of Health Sciences |
| spellingShingle | paediatric pulmonology Eze, Joy Nkiru Building capacity for diagnosis of Primary Ciliary Dyskinesia in South Africa: a descriptive study |
| thesis_degree_str | Master's |
| title | Building capacity for diagnosis of Primary Ciliary Dyskinesia in South Africa: a descriptive study |
| title_full | Building capacity for diagnosis of Primary Ciliary Dyskinesia in South Africa: a descriptive study |
| title_fullStr | Building capacity for diagnosis of Primary Ciliary Dyskinesia in South Africa: a descriptive study |
| title_full_unstemmed | Building capacity for diagnosis of Primary Ciliary Dyskinesia in South Africa: a descriptive study |
| title_short | Building capacity for diagnosis of Primary Ciliary Dyskinesia in South Africa: a descriptive study |
| title_sort | building capacity for diagnosis of primary ciliary dyskinesia in south africa a descriptive study |
| topic | paediatric pulmonology |
| url | http://hdl.handle.net/11427/41542 |
| work_keys_str_mv | AT ezejoynkiru buildingcapacityfordiagnosisofprimaryciliarydyskinesiainsouthafricaadescriptivestudy |