A comprehensive review of cystic fibrosis in Africa and Asia

Bobbo, Khadijat Abubakar; Ahmad, Umar; Chau, De-Ming; Nordin, Norshariza; Abdullah, Saifollah

doi:10.1016/j.sjbs.2023.103685

Cited by 5 publications

(1 citation statement)

References 93 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Although North African countries, including Tunisia, account for a significant majority of CF reports and statistics in the African continent (reviewed in ( Abubakar Bobbo et al, 2023 )) and while clinical testing for CF has been conducted in Tunisia since the 1990s, global frequency and incidence of CF in Tunisia is still poorly estimated, and the genetic background is not yet fully deciphered. Considered a rare disease with variable clinical manifestations, CF may still be underdiagnosed due to the restricted access to the sweat test, especially in public healthcare centres, the limited awareness about the disease pathophysiology by both medical professionals and patient’s families, mainly in the rural areas and the limited number of specialized genetic testing/counselling professionals.…”

Section: Cftr (Cystic Fibrosis Transmembrane Conductance Regulator)mentioning

confidence: 99%

The burden of cystic fibrosis in North Africa

El Makhzen,

Daimi,

Bouguenouch

et al. 2024

Front. Genet.

View full text Add to dashboard Cite

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.

show abstract

Section: Cftr (Cystic Fibrosis Transmembrane Conductance Regulator)mentioning

confidence: 99%