الفهرس 
Bronchial AsthmaOnly 14 pages are availabe for public view
 |  | from | 131 |  |  |
| | | from | 131 | | |
Abstract
Asthma is a chronic inflammatory disorder of the airways that is characterized by an obstruction of airflow. It is commonly seen in children and it is a leading cause of hospital stays and accounts for a loss of 10 million school days annually.
Asthma results from acomplex interactions between environmental and genetic factors resulting in airway inflammation, which limits airflow and leads to functional and structural changes in the airways in the form of bronchospasm, mucosal edema, and mucus plugs.
A correct diagnosis of asthma is essential because its symptoms may be intermittent and their significans may be overlooked by patients and physicians or because they are non-specific, they may result in misdiagnosis, for example: wheezing in asthma may be diagnosed as the first manifestation of alpha-1-antitrypsin deficiency (AATD).
AATD is an inherited disorder involving mutations in the SERPINA1 gene and is characterized by low levels of circulating AAT protein, resulting in an increased risk of lung diseases. The most common deficiency alleles are PIZ and PIS alleles.
AATD with its many genotypes and its manifestationsin various organs is rarely observed in daily clinical practice and is frequently misdiagnosed.Current evidences show that AATD interacting with environmental and/or other genetic factors may predispose to asthma.
The aim of this study is to detect the most common variants (Z and S) of the SERPINA1 gene using a realtime PCR assay in 60 children presented clinically with bronchial asthma to the outpatient clinic, Ain Shams Pediatric University Hospital during the period from February 2012 till September 2012.
Patients were divided into three groups according to the different degrees of severity of bronchial asthma based on GINA Classification into (group 1) mild intermittent asthma, (group 2) mild persistent asthma and (group 3) moderate and severe persistent bronchial asthma.
Our study revealed higher percentage of AAT genetic polymorphism among moderate and severe bronchial asthma. The Z allele either in its homozygous (ZZ) or heterozygous state (MZ or SZ) was found in higher percentages among severe degrees of asthma. None of the patients had SS genotype. Also we found that exposure to passive smoking was higher in asthmatic patients who had mutant AAT genotypes.
We concluded that screening programs must be performed to detect Z and S alleles of the AAT protein in patients having severe degrees of bronchial asthma.