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Cystic fibrosis in Arabs: a prototype from Jordan
1Department of Paediatrics, Faculty of Medicine, University of Science & Technology, PO Box 3030, Irbid, Jordan. rawashde@just.edu.jo
Annals of Tropical Paediatrics
|February 24, 2001
Summary
Cystic fibrosis (CF) is more common in Jordanian Arabs than previously thought, with diverse CFTR mutations and high mortality. This study highlights the need for increased awareness and genetic screening for CF in the region.
Area of Science:
- Medical Genetics
- Pediatrics
- Pulmonology
Background:
- Cystic fibrosis (CF) is considered rare in Arab populations.
- Limited data exists on CF prevalence and genetic mutations in Jordan.
Purpose of the Study:
- To determine the incidence and clinical characteristics of CF in Jordan.
- To identify CFTR mutations prevalent in the Jordanian population.
- To assess CF-related mortality and consanguinity rates.
Main Methods:
- Retrospective analysis of 202 CF cases diagnosed in Jordan over 9 years.
- Clinical data review including age at diagnosis, symptoms, and outcomes.
- Genetic screening of CFTR mutations in 84 patients and 66 parents.
Main Results:
- 202 CF cases diagnosed, with a mean age of 2.9 years.
- Classical symptoms (growth failure, respiratory issues) in 75.4%.
- High mortality rate (23%), particularly in infants.
- Consanguineous marriage in 69% of families.
- 24 different CFTR mutations identified, with DF508 mutation at only 7.4%.
- Six novel CFTR alleles discovered.
Conclusions:
- CF is not rare in Jordan, presenting with severe manifestations and high mortality.
- The genetic landscape of CF in Jordan is diverse, with low DF508 prevalence.
- Increased awareness, genetic screening, and further research are crucial for CF management in this population.