الفهرس 
INTRODUCTIONOnly 14 pages are availabe for public view
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Abstract
Alpha-1-Antitrypsin (AAT), serine proteinase inhibitor, is primarily produced and secreted by the liver but acts in the lung, protecting the alveoli from degradation by neutrophil proteases. AAT deficiency is an autosomal recessive disorder caused by mutations in the AAT gene that result in low serum levels of AAT and is characterized by clinical manifestations primarly in the lungs and liver. There are over 90 genetically determined variants of the AAT allele. The aim of this study is to reveal the correlation between the different genotype of AAT and plasma level of AAT in liver diseases and to evaluate the allelic frequency of AAT genotypes in normal healthy individuals and in chronic liver disease patients (Hepatitis C or other non Hepatitis C liver diseases) in Egyptians.
Sera from 40 Egyptian patients with chronic liver diseases
(15 suffering from hepatitis HCV/HBV and 25 with hepatocellular carcenoma HCC) and 10 healthy control subjects were investigated for serum anti HCV lgG, hepatitis B surface antigen (HBsAg), serum AAT and blood AAT genotypeing.
In hepatitis and HCC patients groups liver enzymes revealed a significant increase in ALT and AST as compared to the control group, The AFP levels showed a highly significant increase in HCC patients group no significant change in total bilirubin was observed. In the group of HCC patients, albumin was significantly decreased. The alpha-1-antitrypsin in this study showed a significant increase in hepatitis patients group and a highly significant increase in HCC patients group. Serum AAT level was higher in HCC patients group regardless the AAT genotype.
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AAT genotyping showed that the allelic frequency of different AAT genotype were: PIMM was the most allelic variant in hepatitis patients, HCC patients groups and controls. PIMS frequency was less than PIMM in hepatitis patients, HCC patients groups and controls, while PIMZ was found in only one HCC patient
Results of correlation within all patients groups showed a positive correlation between sAAT and AFP (r=0.433) and a negative correlation between sAAT and albumin (r=-0.649) in hepatitis or HCC patients groups. No correlation was found between sAAT and all the studied parameters in either hepatitis or HCC patient groups.
In conclusion, this study spot light the allelic frequency of different AAT genotypes in Egyptians. Also this trail showed the relationship between different genotypes that may affect the serum AAT levels which lead to the development of liver cirrhosis and may cause HCC. A cohort screening for the allelic frequency of AAT deficiency in Egyptians should be done and AAT serum level should be considered in differential diagnosis of patients with chronic liver diseases with known or unknown ongm...