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Hossam Adel Gouda Hasan, Karima Ahmed Abdel Khalak, Eman Mahmoud Fouda, Maha Mohamed El Gaafary, Heba Allah Ahmed Ali, Socio-Demographic, Epidemiological and Clinical Pattern of the Egyptian Children with Cystic Fibrosis, QJM: An International Journal of Medicine, Volume 117, Issue Supplement_2, October 2024, hcae175.787, https://doi.org/10.1093/qjmed/hcae175.787
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Abstract
Cystic fibrosis (CF) is a genetic disease; most definitely serious, transmitted in am autosomal recessive mode, that mainly affects the respiratory and gastrointestinal system. However, little is known about the characteristics of CF among the Egyptian children.
To record the demographic, clinical characteristics, diagnostic tools, the most frequent mutations and the outcome of the Egyptian cystic fibrosis children attending our center, paving the way for having national survey of CF children.
This was a cross-sectional studywhich was conducted at Pediatric Pulmonology Unit, Ain Shams University, Children’s Hospital for a period of 12 month recruiting CF patients attending Pediatric Pulmonology Clinic during their routine visits.
Ninety-six CF patients were included whose ages was 6.44(±4.33) years, and ranged between 0.5 to 17.7 years. Gender distribution was fairly even, with 52.1% males and 47.9% females. Most lived in rural areas (56.3%), while 43.8% were in urban areas. 75% of the patients were of average socioeconomic status. A significant portion had a family history of cystic fibrosis (74%). Diverse initial complaints among participants were reported where the most common was failure to thrive in 30.22% of patients, followed by steatorrheain 29.17%. Recurrent chest infections affected 25% of patients, while delayed passage of meconium was reported in 7.3%. The most common presenting symptoms were cough (96.9%) followed by steatorrhea(92.7%) followed by expectoration(84.4%) and wheezes 81.3%. The most common genetic mutations wasF508del (30.2%) No mortality has been reported among the studied cystic fibrosis patients
the comprehensive data presented in this study provide a thorough understanding of the clinical profile, most common mutations and outcomes of the 96 pediatric patients with CF in a single center which is recommended to be done in all centers caring for CF patients to allow establishment of CF registry in Egypt
