Deficit alpha 1 - antitrypsin

Introduction

Alpha1-antitrypsin deficiency is a hereditary disease in which lack of alpha1-antitrisina can cause lung disease and liver.

Alpha1-antitrypsin, an enzyme that produces the liver, is in saliva, duodenal fluid, lung secretions, tears, nose and recrement liquor. This slows the enzyme activity of other enzymes that break down proteins. Alpha1-antitrypsin deficiency to other enzymes that damage tissue in the lungs. Deficiency in the blood indicates liver failure to secrete the enzyme. Its retention in the liver cells can cause damage, fibrosis (scar changes) and cirrhosis.

Symptoms and prognosis

Up to 25% of children with alpha1-antitrypsin deficiency will develop cirrhosis and the portal hypertension and died before he turns 12 years of age. About 25 to 20% die in the year. The remaining 25% had only minor abnormalities of liver and experience adulthood. The remaining 25% have disease that progresses.

In adults, alpha1-antitrypsin deficiency is not common and does not cause cirrhosis, even if it is present. More often than adults with this disorder get emphysema, lung disease that results in shortness of breath all the stronger.Finally, one can develop liver cancer.

Treatment

Some hope was given replacement therapy with synthetic alpha1-antitrypsin, but liver transplantation remains the only successful therapy. In the liver, which produces transplantiranoj alpha1-antitrypsin usually do not show damage.

Treatment for adults is usually focused on lung disease. Measures of treatment include prevention of infection and smoking cessation in smokers.