Article
Characterising cystic fibrosis in African populations: a scoping review protocol on phenotype, diagnosis, genetics and barriers to care.
BMJ open - 10 Feb 2026
Ratner Leah, Marangu-Boore Diana, Hamouda Samia, Kwarteng Owusu Sandra, Eze Joy, Dakshi Areej, Wordui Seyram, Hamdy Ahmed, Owusu Sheila Agyeiwaa, Weldetsadik Yeshidinber, Uluer Ahmet, Daimi Houria, El Makhzen Nada, Abriel Hugues, Nasr Samya, Moosa Shahida, Swanson Chandra, Cronin Alexandria E, Zampoli Marco
Abstract excerpt
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...
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