Aj-antitrypsin deficiency

There is a wide range of disability associated with the pulmonary complications of antitrypsin deficiency, from completely asymptomatic individuals to chronic pulmonary cripples. Most patients develop chronic obstructive pulmonary disease. Unfortunately, once emphysema becomes symptomatic in the aj-antitrypsin-deficient individual, it usually... 

Perlmutter DH aj-Antitrypsin deficiency liver disease associated with retention of a mutant secretory glycoprotein in the endoplasmic reticulum. Methods Mol Biol 232 39-56, 2003. 

Chronic aj-antitrypsin deficiency Wilson s disease Tyrosinaemia Haemochromatosis Cystic fibrosis... 

Deficiency of aj-antitrypsin is also implicated in one type of liver disease (a,-antitrypsin deficiency liver... 

As discussed in detail by Dillard et al. and by Mittman et al. the possible relationship of lysosomal proteases to chronic lung disease has been inferred from the finding of an increased incidence of emphysema in subjects deficient in serum ai>antitrypsin factor, an -globulin that can inhibit lysosomal proteases. (No effect of ozone on serum aj-antitrypsin inhibitor was noted in rabbits chronically exposed to ozone. ) Thus, an ozone-induced increase in concentrations of such enzymes in the lung might produce excess proteolysis and result in eventual chronic lung disease. However, the available evidence is inadequate to support the belief that such a process occurs in humans intermittently exposed to ozone. Further studies of this potential hazard would be of value. 

Several inhibitors bind and inactivate prostate-specific antigen (PSA), including aj-antitrypsin, ai-inacroglobulin, and aj-antiplasmin. ai-Anticliymotrypsin complexes are usually the predominant ones in serum or plasma, probably because of rapid clearance of the others. Levels of compiexed PSA are increased in most patients with prostatic cancer, compared with normal individuals or those with benign prostatic hypertrophy. Quantitative and qualitative (functional) deficiencies reported. 

Alpha-l-antitrypsin (aj-AT) deficiency disease is associated with PAS-positive, diastase-resistant globules in the hepatocytes (Fig. 15.28A). Immunohistochemical staining for aj-AT may be useful in verifying the nature of these granules (Fig. 15.28B). In addition, early in aj-AT deficiency, these globules may not be as visible and immunohistochemistry may be useful in highlighting aj-AT (Fig. 15.28B). The aj-AT stain may be positive as early as 19 weeks gestation. ... 

In a minority of patients, emphysema results from a genetic deficiency of the plasma proteinase inhibitor aj-antiproteinase (also called aj-antitrypsin). Lung tissue destruction is caused by the unopposed action of neutrophil elastase and other proteinases. Purified a -antiproteinase (prolastin) from human plasma is available for intravenous replacement. 

Gaensler EA, Goff AM, Prowse CM (1966) Desquamative interstitial pneumonia. N Engl J Med 274 113-128 Gishen P, Saunders AJS, Tobin MJ, Hutchinson DCS (1982) Alphal-antitrypsin deficiency the radiological features of pulmonary emphysema in subjects of Pi type Z and Pi type SZ. A survey hy the British Thoracic Association. Clin Radiol 33 371-377... 

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