{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T08:18:35Z","timestamp":1770970715821,"version":"3.50.1"},"reference-count":11,"publisher":"BMJ","issue":"2","license":[{"start":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T00:00:00Z","timestamp":1770681600000},"content-version":"unspecified","delay-in-days":9,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Open"],"accepted":{"date-parts":[[2026,1,21]]},"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Cystic fibrosis (CF) is a life-shortening genetic disorder traditionally mischaracterised as affecting only populations of European descent. This framing has contributed to under-recognition of CF in African populations, despite emerging evidence of both common and region-specific cystic fibrosis transmembrane conductance regulator mutations across the continent. Diagnostic barriers, structural inequities and lack of surveillance further exacerbate disparities in care and visibility.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and analysis<\/jats:title>\n                    <jats:p>This scoping review aims to characterise CF in African populations by synthesising evidence on clinical presentation, diagnostic practices, genotypic diversity, prevalence and structural barriers to care. We will include case reports, cohort studies, registry analyses and other primary data sources involving individuals of African descent with suspected or confirmed CF. Key outcomes include clinical phenotype, age at diagnosis, mutation profile, diagnostic testing access and mortality. Data sources include Ovid Medline, Embase, Ebsco Global Health, CAB Abstracts and Web of Science Core Collection. Multiple-reviewer screening and extraction will be conducted. We will use narrative synthesis, thematic analysis and meta-analysis for prevalence where feasible.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Ethics and dissemination<\/jats:title>\n                    <jats:p>No ethical approval is required as the review uses published data. Results will be shared with clinicians, researchers and CF networks in Africa and globally to inform diagnostic strategies and policy.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/bmjopen-2025-110798","type":"journal-article","created":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T15:26:43Z","timestamp":1770737203000},"page":"e110798","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Characterising cystic fibrosis in African populations: a scoping review protocol on phenotype, diagnosis, genetics and barriers to care"],"prefix":"10.1136","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6326-3543","authenticated-orcid":false,"given":"Leah","family":"Ratner","sequence":"first","affiliation":[{"name":"Division of Global Health Equity, Brigham and Women\u2019s Hospital, Boston, Massachusetts, USA"},{"name":"Global Health and Social Medicine, Harvard Medical School, Boston, Massachusetts, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana","family":"Marangu-Boore","sequence":"additional","affiliation":[{"name":"Paediatrics and Child Health, University of Nairobi, Nairobi, Kenya"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samia","family":"Hamouda","sequence":"additional","affiliation":[{"name":"Bechir Hamza Children\u2019s Hospital, Al Manar University, Tunis, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra","family":"Kwarteng Owusu","sequence":"additional","affiliation":[{"name":"Department of Child Health, School of Medical Sciences, KNUST, Kumasi, Ashanti Region, Ghana"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joy","family":"Eze","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, University of Nigeria\/University of Nigeria Teaching Hospital Ituku-Ozalla, Lagos, Nigeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Areej","family":"Dakshi","sequence":"additional","affiliation":[{"name":"Respirtory disease, Abusetta Hospital for Respiratory Hospital, Tripoli, Libya"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seyram","family":"Wordui","sequence":"additional","affiliation":[{"name":"Department of Child Health, Korle Bu Teaching Hospital, Accra, Ghana"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmed","family":"Hamdy","sequence":"additional","affiliation":[{"name":"Faculty of Pharmacy, Zagazig University, Zagazig, Egypt"},{"name":"Institute for Biochemistry and Molecular Medicine, University of Bern, Bern, Switzerland"},{"name":"Cluster of Research Excellence - Genomics for Health in Africa, University of Bern, Bern, Switzerland"},{"name":"Initiative Afrique, University of Bern, Bern, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheila Agyeiwaa","family":"Owusu","sequence":"additional","affiliation":[{"name":"University for Development Studies, Tamale, Ghana"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yeshidinber","family":"Weldetsadik","sequence":"additional","affiliation":[{"name":"Pediatric Pulmonary and Critical Care, St Paul\u2019s Millennium Medical College, Addis Abbaba, Ethiopia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmet","family":"Uluer","sequence":"additional","affiliation":[{"name":"Division of Pulmonary Medicine, Boston Children\u2019s Hospital, Boston, Massachusetts, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Houria","family":"Daimi","sequence":"additional","affiliation":[{"name":"Faculty of Sciences, University of Gab\u00e8s, Gab\u00e8s, Tunisia"},{"name":"Laboratory of Human Genome and Multifactorial Diseases (LR12ES07), School of Pharmacy, Monastir, Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nada","family":"El Makhzen","sequence":"additional","affiliation":[{"name":"Institute for Biochemistry and Molecular Medicine, University of Bern, Bern, Switzerland"},{"name":"Cluster of Research Excellence - Genomics for Health in Africa, University of Bern, Bern, Switzerland"},{"name":"Initiative Afrique, University of Bern, Bern, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hugues","family":"Abriel","sequence":"additional","affiliation":[{"name":"Institute for Biochemistry and Molecular Medicine, University of Bern, Bern, Switzerland"},{"name":"Cluster of Research Excellence - Genomics for Health in Africa, University of Bern, Bern, Switzerland"},{"name":"Initiative Afrique, University of Bern, Bern, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samya","family":"Nasr","sequence":"additional","affiliation":[{"name":"Pediatrics, Section of Pulmonary Medicine, University of Michigan Michigan Medicine, Ann Arbor, Michigan, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shahida","family":"Moosa","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Human Genetics, Stellenbosch University Faculty of Medicine and Health Sciences, Cape Town, South Africa"},{"name":"Medical Genetics, Tygerberg Hospital, Tygerberg Hospital, Cape Town, South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chandra","family":"Swanson","sequence":"additional","affiliation":[{"name":"Division of Pulmonary Medicine, Boston Children\u2019s Hospital, Boston, Massachusetts, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandria E","family":"Cronin","sequence":"additional","affiliation":[{"name":"Countway Library, Harvard Medical School, Boston, Massachusetts, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Zampoli","sequence":"additional","affiliation":[{"name":"University of Cape Town, Cape Town, South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2026,2,10]]},"reference":[{"key":"2026021223252755000_16.2.e110798.1","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1002\/ame2.12180","article-title":"A review of cystic fibrosis: Basic and clinical aspects","volume":"4","author":"Chen","year":"2021","journal-title":"Anim Models and Exp Med"},{"key":"2026021223252755000_16.2.e110798.2","doi-asserted-by":"crossref","first-page":"2330","DOI":"10.1001\/jama.2021.5086","article-title":"Tackling the Misconception That Cystic Fibrosis Is a \u201cWhite People\u2019s Disease\u201d","volume":"325","author":"Rubin","year":"2021","journal-title":"JAMA"},{"key":"2026021223252755000_16.2.e110798.3","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1038\/gim.2015.157","article-title":"Cystic fibrosis on the African continent","volume":"18","author":"Stewart","year":"2016","journal-title":"Genet Med"},{"key":"2026021223252755000_16.2.e110798.4","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-024-03506-1","article-title":"Diagnosing cystic fibrosis in low- and middle-income countries: challenges and strategies","volume":"19","author":"Fuhrer","year":"2024","journal-title":"Orphanet J Rare Dis"},{"key":"2026021223252755000_16.2.e110798.5","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2023.1295008","article-title":"The burden of cystic fibrosis in North Africa","volume":"14","author":"El Makhzen","year":"2023","journal-title":"Front Genet"},{"key":"2026021223252755000_16.2.e110798.6","doi-asserted-by":"crossref","first-page":"167","DOI":"10.25259\/JPATS_10_2021","article-title":"Cystic Fibrosis in two Ghanaian Children","volume":"2","author":"Owusu","year":"2021","journal-title":"JPATS"},{"key":"2026021223252755000_16.2.e110798.7","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2001.590106.x"},{"key":"2026021223252755000_16.2.e110798.8","doi-asserted-by":"crossref","first-page":"386","DOI":"10.34197\/ats-scholar.2023-0156BR","article-title":"Nationwide Survey of Cystic Fibrosis Knowledge and Resource Accessibility in Egypt","volume":"5","author":"Fleifil","year":"2024","journal-title":"ATS Scholar"},{"key":"2026021223252755000_16.2.e110798.9","doi-asserted-by":"publisher","DOI":"10.11124\/JBIES-20-00167"},{"key":"2026021223252755000_16.2.e110798.10","doi-asserted-by":"publisher","DOI":"10.1080\/1364557032000119616"},{"key":"2026021223252755000_16.2.e110798.11","doi-asserted-by":"crossref","DOI":"10.1186\/s13012-017-0550-7","article-title":"Using the Consolidated Framework for Implementation Research (CFIR) to produce actionable findings: a rapid-cycle evaluation approach to improving implementation","volume":"12","author":"Keith","year":"2017","journal-title":"Implement Sci"}],"container-title":["BMJ Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bmjopen-2025-110798","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T07:25:45Z","timestamp":1770967545000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmjopen.bmj.com\/lookup\/doi\/10.1136\/bmjopen-2025-110798"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2]]},"references-count":11,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2026,2,10]]},"published-print":{"date-parts":[[2026,2]]}},"alternative-id":["10.1136\/bmjopen-2025-110798"],"URL":"https:\/\/doi.org\/10.1136\/bmjopen-2025-110798","relation":{},"ISSN":["2044-6055","2044-6055"],"issn-type":[{"value":"2044-6055","type":"print"},{"value":"2044-6055","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2]]}}}