{"id":{"repo_id":"cape-town","oai_identifier":"oai:open.uct.ac.za:11427/41542"},"canonical_url":"https://search.dev.ndltd.org/etd/cape-town/oai:open.uct.ac.za:11427/41542","repository":{"repo_id":"cape-town","name":"University of Cape Town","base_url":"https://open.uct.ac.za/oai/request"},"display":{"title":"Building capacity for diagnosis of Primary Ciliary Dyskinesia in South Africa: a descriptive study","abstract":"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","abstract_html":"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 &lt;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","abstract_has_math":false,"creators":["Eze, Joy Nkiru"],"institution":"Department of Paediatrics and Child Health","degree_name":null,"degree_level":null,"degree_discipline":null,"degree_department":null,"school":null,"contributors":[],"advisors":["Zampoli, Marco","Gray Diane"],"committee_chairs":[],"committee_members":[],"year":2025,"date_issued":"2025","date_published":"2025","updated_at":"2026-07-22T22:22:51Z","subjects":["paediatric pulmonology"],"languages":[],"rights":[],"rights_urls":[],"identifier_entries":[]},"links":{"outbound_url":"http://hdl.handle.net/11427/41542","outbound_label":"Handle","outbound_source":"dc:identifier.uri"},"metadata_groups":[{"id":"people","label":"People","entries":[{"key":"dc:contributor.advisor","label":"Advisor","values":["Zampoli, Marco","Gray Diane"]},{"key":"dc:creator","label":"Author","values":["Eze, Joy Nkiru"]}]},{"id":"academic_context","label":"Academic Context","entries":[{"key":"dc:date.accessioned","label":"Dc Date Accessioned","values":["2025-07-23T07:09:36Z"]},{"key":"dc:date.available","label":"Dc Date Available","values":["2025-07-23T07:09:36Z"]},{"key":"dc:date.issued","label":"Date","values":["2025"]},{"key":"dc:publisher.department","label":"Dc Publisher Department","values":["Department of Paediatrics and Child Health"]},{"key":"dc:type","label":"Dc Type","values":["Thesis / Dissertation"]},{"key":"dc:type.qualificationlevel","label":"Dc Type Qualificationlevel","values":["Masters","MPhil"]}]},{"id":"subjects_keywords","label":"Subjects and Keywords","entries":[{"key":"dc:subject","label":"Dc Subject","values":["paediatric pulmonology"]}]},{"id":"identifiers","label":"Identifiers","entries":[{"key":"dc:identifier.uri","label":"Identifier URI","values":["http://hdl.handle.net/11427/41542"]}]},{"id":"additional","label":"Additional Metadata","entries":[{"key":"dc:description.abstract","label":"Abstract","values":["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"]},{"key":"dc:title","label":"Title","values":["Building capacity for diagnosis of Primary Ciliary Dyskinesia in South Africa: a descriptive study"]}]}],"canonical_facts":{"dc:contributor.advisor":["Zampoli, Marco","Gray Diane"],"dc:creator":["Eze, Joy Nkiru"],"dc:date.accessioned":["2025-07-23T07:09:36Z"],"dc:date.available":["2025-07-23T07:09:36Z"],"dc:date.issued":["2025"],"dc:description.abstract":["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"],"dc:identifier.uri":["http://hdl.handle.net/11427/41542"],"dc:publisher.department":["Department of Paediatrics and Child Health"],"dc:subject":["paediatric pulmonology"],"dc:title":["Building capacity for diagnosis of Primary Ciliary Dyskinesia in South Africa: a descriptive study"],"dc:type":["Thesis / Dissertation"],"dc:type.qualificationlevel":["Masters","MPhil"]},"updated_at":"2026-07-22T22:22:51Z"}