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The burden of cystic fibrosis in North Africa

Nada El Makhzen1, Houria Daimi2,3, Laila Bouguenouch4

  • 1Ion Channels and Channelopathies Laboratory, Institute for Biochemistry and Molecular Medicine, University of Bern, Bern, Switzerland.

Frontiers in Genetics
|January 25, 2024
PubMed

Insights

Cystic fibrosis (CF) prevalence in North Africa is likely underestimated due to diagnostic challenges. More genetic and epidemiological studies are needed to improve CF diagnosis in African populations.

Area of Science:

  • Genetics
  • Epidemiology
  • Pathogenesis

Background:

  • Cystic fibrosis (CF) is a global autosomal recessive disease caused by over 200 pathogenic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
  • The p.Phe508del variant is the most common CFTR mutation.
  • Recent studies indicate a higher global prevalence of CF than previously estimated.

Purpose of the Study:

  • To review the pathogenesis of CF.
  • To assess the prevalence of CF in North African countries.
  • To highlight the information gap in CF data among African populations.

Main Methods:

  • Literature review of CF pathogenesis.
  • Analysis of available epidemiological data on CF in North Africa.
  • Discussion of diagnostic challenges and genetic investigation needs.

Main Results:

  • Comprehensive CF data is scarce in African populations, leading to potential underestimation, especially in children.
  • CF prevalence in North Africa is likely underestimated.
  • Disease complexity and lack of timely genetic investigation hinder early CF identification.

Conclusions:

  • Early identification of CF patients in North Africa is limited by diagnostic complexity and insufficient genetic investigation.
  • Targeted genetic and epidemiological studies in symptomatic African individuals are crucial.
  • Enhanced diagnostic yield for CF in Africa requires dedicated research efforts.

Keywords:
CFCFTRNorth Africamonogenic diseaserare disease

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