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Published on: April 11, 2018
Cystic fibrosis detection in high-risk Egyptian children and CFTR mutation analysis
Maggie L Naguib1, Iris Schrijver, Phyllis Gardner
1Department of Pediatrics, Division of Pulmonology, Cairo University Children's Hospital, Faculty of Medicine Cairo, Egypt.
Insights
Cystic Fibrosis (CF) is more common in Egyptian children than previously thought, with 20% of screened patients testing positive. Genetic analysis identified eight CFTR sequence changes, highlighting the need for further research into CF's prevalence and genetic causes in Egypt.
Area of Science:
- Medical Genetics
- Pediatric Pulmonology
- Genetic Epidemiology
Background:
- Limited data exists on Cystic Fibrosis (CF) prevalence in Egypt.
- CF is a genetic disorder affecting multiple organs, primarily the lungs and digestive system.
- Early diagnosis and genetic understanding are crucial for effective management.
Purpose of the Study:
- To screen Egyptian children with clinical symptoms suggestive of CF.
- To identify the genetic mutations responsible for CF in this population.
- To assess the potential underestimation of CF incidence in Egypt.
Main Methods:
- Sixty-one pediatric patients with relevant symptoms were enrolled.
- Sweat testing was performed, followed by quantitative sweat testing for positive cases.
- DNA sequencing of the CFTR gene was conducted on affected individuals and a sibling.
Main Results:
- Twelve out of 61 patients (20%) showed positive results on initial sweat chloride screening.
- Quantitative sweat testing confirmed positive results in 10 patients.
- Eight distinct CFTR sequence variations were identified in seven probands and one sibling.
Conclusions:
- Cystic Fibrosis appears to be more prevalent in Egypt than previously recognized.
- Further extensive studies are needed to determine the true incidence and genetic landscape of CF in Egypt.
- Understanding the molecular basis and clinical patterns of CF in Egypt is essential for public health initiatives.
Background:
Knowledge about Cystic Fibrosis (CF) in Egypt is very limited. The objective of this study was to screen for CF in Egyptian children with suggestive clinical features and to identify causative genetic mutations.
Methods:
Sixty-one patients from the Chest Unit, Cairo University Children's Hospital, Egypt, were included. Subjects presented with persistent or recurrent respiratory symptoms, failure to thrive, diarrhea and/or steatorrhea and unexplained persistent jaundice. Patients were screened using the CF Indicatortrade mark sweat test system (PolyChrome Medical, Inc., Brooklyn Center, MN). A quantitative sweat testing was conducted on 10 of the 12 positive patients. Seven probands and one sibling underwent molecular analysis by direct DNA sequencing of the coding region and of the intronic sequences adjacent to the 27 exons of the CFTR gene.
Results:
Of 61 patients, 12 (20%) had positive sweat chloride screening. Ten of the 12 patients underwent quantitative sweat testing and were positive. Eight CFTR sequence changes were identified in seven affected probands and two were confirmed in one sibling by direct DNA sequencing.
Conclusion:
The study results suggest that CF is more common in Egypt than previously anticipated. Larger studies are warranted to identify the incidence, molecular basis and clinical pattern of CF in the Egyptian population.
