Acta Pharm. 50 (2000) 1-16

Alpha-1-antitrypsin deficiency: From detection to therapy

SLAVICA DODIG,^1*  IVANA CEPELAK²  and   MILJENKO RAOS¹

¹Special Hospital for Respiratory Diseases in Children and Adolescents, Zagreb, Croatia  
²Department of Medical Biochemistry and Haematology, Faculty of Pharmacy and Biochemistry, University of Zagreb, Zagreb, Croatia 

Inherited deficiency of alpha-1-antitrypsin is one of the best known abnormalities affecting the lungs. DNA sequence of the responsible gene has been identified, and the gene has been cloned. Genetically engineered alpha-1-antitrypsin has been synthesised and treatment with synthetic protein has been initiated. Many questions remain. The future will clear out the pathogenesis of liver diseases, replaceable, prophylactic and inhalant therapy for specific and nonspecific protection of lung. Early detection of alpha-1-antitrypsin deficiency as well as drug administration are very important for clinical practice. The patient must be educated about environmental control to avoid or eliminate factors that induce lung diseases.

Keywords: alpha-1-antitrypsin, lung, disease, liver disease