Alpha-1-antitrypsin deficiency: an overview of recent advances.
Alpha1-antitrypsin (alpha1AT), 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 alpha1AT is located on chromosome 14 q 32 and is highly susceptible to mutations. A large number of variants of alpha1AT are known and some including PiZ and PiS result in alpha1AT deficiency. In patients with PiZ, the most severe and common alpha1AT deficient variant, the alpha1AT protein accumulates in the liver and results in severe hepatic diseases. Other clinical consequences of alpha1AT 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 alpha1AT or recombinant alpha1AT given intravenously or as aerosol. Synthetic peptides. lung transplantation and volume reduction surgery are under investigation and evaluation. This paper updates the information on alpha1 AT and its deficiency state.
Department of Medical Biochemistry, College of Medicine and King Khaled University Hospital, King Saud University, Riyadh, Saudi Arabia.
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El Hazmi