PDF(Pubmed)
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.
摘要：
背景：囊性纤维化跨膜传导调节因子（CFTR）基因中的200多种致病变异与囊性纤维化（CF）相关，这是全球最普遍的常染色体隐性遗传病，p.Phe508del变体是最常见的。正文：最近的流行病学研究表明，CF的全球患病率比以前认为的要高。然而，全面的CF数据在非洲人口中仍然极其稀缺，导致非洲医疗保健系统内的重大信息差距。因此,非洲人口儿童中CF的低估是可能的。本文的目的是回顾CF的发病机制及其在北非国家的流行情况。结论:由于疾病的复杂性和缺乏及时、适当的临床和遗传调查，可以早期识别CF患者，从而促进治疗建议。因此,应该对出现CF症状的非洲个体进行特定的遗传和流行病学研究,以提高非洲CF的诊断率.
