Document Type : Review Articles
Authors
1
Professor of Pediatrics Faculty of Medicine - Banha University
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Pediatric department, Benha faculty of medicine, Benha University, Egypt.
3
Pediatric department, Benha faculty of medicine, Benha University, Egypt
4
Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre,Cairo, Egypt.
5
Biochemical Genetics Department, National Research Centre, Cairo, Egypt
6
M.B.B.Ch. Faculty of Medicine, Alexandria University, Egypt
7
Medical Molecular Genetics Department, National Research Centre, Cairo, Egypt.
Abstract
Background: Cystic fibrosis (CF) is a hereditary disorder affecting primarily the respiratory and digestive systems, caused by mutations in the CFTR gene. Globally, CF is a significant cause of morbidity and mortality, especially prevalent among populations of European descent. In the Middle East, including Egypt, the prevalence is less well-documented, leading to potential diagnostic challenges and delays. Objective: This comprehensive review aims to explore the clinical and molecular diagnosis of cystic fibrosis, with a particular focus on the application of these diagnostic methods in a sample of Egyptian children. The review seeks to provide an in-depth analysis of current practices, highlight unique diagnostic challenges, and suggest improvements for the Egyptian healthcare context. Conclusions: A combined clinical and molecular diagnostic approach is crucial for the accurate and early diagnosis of cystic fibrosis. While clinical methods remain essential, molecular diagnostics provide a deeper understanding of the genetic basis of CF, enabling personalized treatment strategies. For Egyptian children, where specific mutations may be more prevalent, adopting a comprehensive diagnostic protocol is imperative. The review highlights the need for improved screening programs, enhanced genetic research, and public health strategies to better manage CF in Egypt and similar regions. Future research should focus on expanding molecular diagnostic capabilities and developing tailored treatment approaches.
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