The burden of cystic fibrosis in North Africa

Nada El Makhzen; Houria Daimi; Laila Bouguenouch; Hugues Abriel

doi:10.3389/fgene.2023.1295008

The burden of cystic fibrosis in North Africa

Front Genet. 2024 Jan 10:14:1295008. doi: 10.3389/fgene.2023.1295008. eCollection 2023.

Authors

Nada El Makhzen¹, Houria Daimi^{2

3}, Laila Bouguenouch⁴, Hugues Abriel¹

Affiliations

¹ Ion Channels and Channelopathies Laboratory, Institute for Biochemistry and Molecular Medicine, University of Bern, Bern, Switzerland.
² Laboratory of Human Genome and Multifactorial Diseases (LR12ES07), Faculty of Pharmacy, University of Monastir, Monastir, Tunisia.
³ Department of Biology, Faculty of Sciences, University of Gabes, Gabès, Tunisia.
⁴ Laboratory of Medical Genetics and Oncogenetics, University Hospital Hassan II, Sidi Mohamed Ben Abdellah University, Fez, Morocco.

Abstract

Background: Over 200 pathogenic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are associated with cystic fibrosis (CF)-the most prevalent autosomal recessive disease globally, the p.Phe508del variant being the most commonly observed. Main text: Recent epidemiological studies suggest a higher global prevalence of CF than previously thought. Nevertheless, comprehensive CF data remains extremely scarce among African populations, contributing to a significant information gap within the African healthcare system. Consequently, the underestimation of CF among children from African populations is likely. The goal of this article is to review the pathogenesis of CF and its prevalence in the countries of North Africa. Conclusion: The prevalence of CF in North African countries is likely underestimated due to the complexity of the disease and the lack of a timely, proper clinical and genetic investigation that allows the early identification of CF patients and thus facilitates therapeutic recommendations. Therefore, specific genetic and epidemiological studies on African individuals showing CF symptoms should be conducted to enhance the diagnostic yield of CF in Africa.

Keywords: CF; CFTR; North Africa; monogenic disease; rare disease.

Publication types

Review

Grants and funding

The author(s) declare financial support was received for the research, authorship, and/or publication of this article. This review article was co-funded by the Swiss Government Excellence Scholarship grant (scholarship number Nada ESKAS to NE, 2022.0635) and received institutional funding from the University of Bern for HA