%0 Journal Article
%T Young adult with liver cirrhosis, portal vein thrombosis, a reported case of 1anti-trypsin deficiency
%A Sameh Seif 1
%A Mohamed A. Ezzel Arab 2
%A Mohammad A.Hassanein1 Mohamed El
%J The Egyptian Journal Of Hospital Medicine
%D 2010
%I Pan Arab League of Continuous Medical Education
%X Alpha-1 antitrypsin is a protein with a 1 AT gene cause derangements in the inhibitory capability over the proteolytic intracellular processing of a I AT, enzyme elastase. Since its first description culminating in hepatocyte injury in 1963, over 100 different a 1 AT alleles (Errickson S.,1986). The most severe form have been described (Folch E., et al, of deficiency is the homozygous expression 2007).The major clinical manifestations of of the Z allele or PI*ZZ, when this a 1 AT deficiency relate to the function of a expression occurs, it accounts for 95% of 1 AT and where it is made. A 1 AT serves cases of severe a 1 AT deficiency. The as an inhibitor of neutrophil elastase (NE), three organs most commonly affected by a a powerful, destructive proteolytic enzyme 1 AT are the lungs, liver and skin.a 1 AT stored in neutrophils (Carrell R. W, et al., deficiency is the most frequently 1982) (Janoff A, .1985). The liver is the recognized genetic risk factor for chronic major site of a 1 AT gene expression, obstructive pulmonary disease (COPD). releasing 2 g of a 1 AT into the circulation Even though it remains under diagnosed, its daily. A 1 AT diffuses into most organs, importance continues to grow in the field of where it protects extracellular structures solid organ transplantation, accounting for from attack by NE released by activated or 8-9% of all lung transplants. A 1 AT is the disintegrating neutrophils. The lower most common metabolic liver disease respiratory tract is particularly vulnerable to requiring liver transplantation in children. deficiency of a 1 AT, which normally represents > 90% of the anti-NE protective The presence of cirrhosis in alpha-1-screen of the alveolar walls (Gadek J. E., et antitrypsin deficiency is low, approximately al., 1981)(Wewers, M. D., et al., 1987) 2.2/100,000 for ZZ homozygotes. The .When serum a IAT levels are < 11 um, male-to-female ratio was 2 to 1. In one-there is insufficient a IAT to protect the third of the patients alcohol could have lower respiratory tract from its burden of been a co-adjuvant or aggravating factor in NE, permitting progressive destruction of the liver disease (Folch E.,et al ,2007). the alveoli, which culminates in We describe a unique case of a 27 year-old emphysema (Wewers, M. D., et al., 1987). man with a 1 AT, presented with liver The pathogenesis of the liver disease is less cirrhosis portal vein thrombosis & multiple well understood, but relates to the fact that bony deformities. hepatocytes are the major site of a l AT Case presentation: synthesis, and that certain mutations of
%U http://egyptianjournal.net78.net/39_8.pd