Alpha-1-antitrypsin deficiency: An overview of recent advances

• Main Author: El Hazmi Mohsen
• Format: Article
• Language: English
• Published: Wolters Kluwer Medknow Publications 1996-01-01
• Series: The Saudi Journal of Gastroenterology
• Online Access: http://www.saudijgastro.com/article.asp?issn=1319-3767;year=1996;volume=2;issue=3;spage=113;epage=119;aulast=El

Alpha 1-antitrypsin (αl AT), a serpine, is one of the most important proteinase inhibitor in the serum and plays an essential role in protection of the lung tissues against the proteolytic attach of elastase. The gene for a1AT is located on chromosome 14 q 32 and is highly susceptible to mutations. A large number of variants of α 1 AT are known and some including PiZ and PiS result in a1AT deficiency. In patients with PiZ, the most severe and common α1AT deficient variant, the α1AT protein accumulates in the liver and results in severe hepatic diseases. Other clinical consequences of α1AT deficiency include emphysema in majority of the patients. This state is further aggravated in patients who smoke. Several treatment strategies have been suggested, including replacement therapy by purified α1AT or recombinant α1AT given intravenously or as aerosol. Synthetic peptides. lung transplantation and volume reduction surgery are under investigation and evaluation. This paper updates the information on α1 AT and its deficiency state.