الفهرس 
ContentsOnly 14 pages are availabe for public view
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Abstract
Cystic fibrosis (CF) is an autosomal recessive genetic disorder It is a disease of mucous membrane due to mutation of cystic fibrosis transmembrane conductance regulator (CFTR) gene that results in formation of vicious mucous. The term CF asthma refers to asthma like symptoms and bronchial hyper-responsiveness as have been reported in CF patients. Both cystic fibrosis and asthma are characterized by airway inflammation and smooth muscle contraction due to stimulation by host inflammatory mediators. Aim of the Work We aim to study children with refractory asthma, who were resistant to conventional therapy; searching for those carriers for mutations in CFTR. Patients and Method Study design: This study is a cross sectional (A one-year single institutional) study, that will include 45 cases with a diagnosis of chronic obstructive airway disease mainly bronchial asthma and not responding to usual asthma therapy. Patients will be recruited from Chest clinic in Mansoura Children’s Hospital and screened for inclusion/exclusion criteria. Molecular analysis has been performed for 50 subjects (45 cases with refractory asthma and 5 parents) searching for three common mutations (DF508, G542X and W1282X . Data collection: Detailed history including age, consanguinity, associated co morbidities, age of symptom onset, symptoms (cough, dry or productive, wheezes, level of dyspnea), active therapy, recurrent chest infections, compliance on treatment, associated upper respiratory tract or gastrointestinal symptoms, and physical and mental development. Family history collected for cystic fibrosis or chronic lung disease. Full Clinical examination was performed .Laboratory studies: Blood samples will be collected for screening for common CFTR gene mutations defined worldwide (DF508, G542Xand W1282X). Peripheral blood (3.0 ml) will be collected in an EDTA vial and DNA extraction will be performed. The mutation analysis for CFTR gene will be carried out by ARMS-PCR using primers. Results Our results, compared to other studies, displayed a high recurrence of CFTR mutations (72%) of patients with refractory asthma. It has been shown that heterozygosity for cystic fibrosis is associated with increased airway reactivity and heterozygotes may be at risk for poor pulmonary function. Double heterozygotes were found having increased risk for severe symptoms, diagnosis at young age, increase risk for complications and increased hospital admission.