{
  "abstract": "Introduction 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.Methods and analysis 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.Ethics and dissemination 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.",
  "authors": [
    {
      "affiliations": [
        "Division of Global Health Equity, Brigham and Women’s Hospital, Boston, Massachusetts, USA",
        "Global Health and Social Medicine, Harvard Medical School, Boston, Massachusetts, USA"
      ],
      "name": "Leah Ratner"
    },
    {
      "affiliations": [
        "Paediatrics and Child Health, University of Nairobi, Nairobi, Kenya"
      ],
      "name": "Diana Marangu-Boore"
    },
    {
      "affiliations": [
        "Bechir Hamza Children’s Hospital, Al Manar University, Tunis, Tunisia"
      ],
      "name": "Samia Hamouda"
    },
    {
      "affiliations": [
        "Department of Child Health, School of Medical Sciences, KNUST, Kumasi, Ashanti Region, Ghana"
      ],
      "name": "Sandra Kwarteng Owusu"
    },
    {
      "affiliations": [
        "Department of Paediatrics, University of Nigeria/University of Nigeria Teaching Hospital Ituku-Ozalla, Lagos, Nigeria"
      ],
      "name": "Joy Eze"
    },
    {
      "affiliations": [
        "Respirtory disease, Abusetta Hospital for Respiratory Hospital, Tripoli, Libya"
      ],
      "name": "Areej Dakshi"
    },
    {
      "affiliations": [
        "Department of Child Health, Korle Bu Teaching Hospital, Accra, Ghana"
      ],
      "name": "Seyram Wordui"
    },
    {
      "affiliations": [
        "Faculty of Pharmacy, Zagazig University, Zagazig, Egypt",
        "Institute for Biochemistry and Molecular Medicine, University of Bern, Bern, Switzerland",
        "Cluster of Research Excellence - Genomics for Health in Africa, University of Bern, Bern, Switzerland",
        "Initiative Afrique, University of Bern, Bern, Switzerland"
      ],
      "name": "Ahmed Hamdy"
    },
    {
      "affiliations": [
        "University for Development Studies, Tamale, Ghana"
      ],
      "name": "Sheila Agyeiwaa Owusu"
    },
    {
      "affiliations": [
        "Pediatric Pulmonary and Critical Care, St Paul’s Millennium Medical College, Addis Abbaba, Ethiopia"
      ],
      "name": "Yeshidinber Weldetsadik"
    },
    {
      "affiliations": [
        "Division of Pulmonary Medicine, Boston Children’s Hospital, Boston, Massachusetts, USA"
      ],
      "name": "Ahmet Uluer"
    },
    {
      "affiliations": [
        "Faculty of Sciences, University of Gabès, Gabès, Tunisia",
        "Laboratory of Human Genome and Multifactorial Diseases (LR12ES07), School of Pharmacy, Monastir, Tunisia"
      ],
      "name": "Houria Daimi"
    },
    {
      "affiliations": [
        "Institute for Biochemistry and Molecular Medicine, University of Bern, Bern, Switzerland",
        "Cluster of Research Excellence - Genomics for Health in Africa, University of Bern, Bern, Switzerland",
        "Initiative Afrique, University of Bern, Bern, Switzerland"
      ],
      "name": "Nada El Makhzen"
    },
    {
      "affiliations": [
        "Institute for Biochemistry and Molecular Medicine, University of Bern, Bern, Switzerland",
        "Cluster of Research Excellence - Genomics for Health in Africa, University of Bern, Bern, Switzerland",
        "Initiative Afrique, University of Bern, Bern, Switzerland"
      ],
      "name": "Hugues Abriel"
    },
    {
      "affiliations": [
        "Pediatrics, Section of Pulmonary Medicine, University of Michigan Michigan Medicine, Ann Arbor, Michigan, USA"
      ],
      "name": "Samya Nasr"
    },
    {
      "affiliations": [
        "Department of Molecular Biology and Human Genetics, Stellenbosch University Faculty of Medicine and Health Sciences, Cape Town, South Africa",
        "Medical Genetics, Tygerberg Hospital, Tygerberg Hospital, Cape Town, South Africa"
      ],
      "name": "Shahida Moosa"
    },
    {
      "affiliations": [
        "Division of Pulmonary Medicine, Boston Children’s Hospital, Boston, Massachusetts, USA"
      ],
      "name": "Chandra Swanson"
    },
    {
      "affiliations": [
        "Countway Library, Harvard Medical School, Boston, Massachusetts, USA"
      ],
      "name": "Alexandria E Cronin"
    },
    {
      "affiliations": [
        "University of Cape Town, Cape Town, South Africa"
      ],
      "name": "Marco Zampoli"
    }
  ],
  "title": "Characterising cystic fibrosis in African populations: a scoping review protocol on phenotype, diagnosis, genetics and barriers to care",
  "uid": "b6610eca-835c-5e69-a8fd-34d93e650f39"
}