Antitrypsin Deficiency

Ax-Antitrypsin is a low-molecular protease inhibitor that suppresses the activity of many proteolytic enzymes: trypsin, chymotrypsin, plasmin, thrombin, elastase, hyaluronidase, proteases of leukocytes, macrophages, microorganisms, etc. A number of hereditary diseases are based on a deficiency of Ax-anti-trypsin - a glycoprotein synthesized in the liver. In 0.03-0.015% (i.e. 1 in 3000-6000) newborns, α1-antitrypsin activity is sharply reduced.

Oc1-antitrypsin deficiency leads to increased accumulation of proteolytic enzymes and subsequent tissue damage. It is known, however, that with a1-antitrypsin deficiency, damage to the lungs and liver is not always severe and irreversible. Apparently, this deficit can be compensated by other mechanisms.

Clinical picture:

Already in the neonatal period, there is an enlargement of the liver, the development of jaundice, discoloration of feces, darkening of urine due to cholestasis. Cholestasis may be incomplete, and then the severity of the clinical picture varies.

Laboratory studies indicate the presence of conjugated hyperbilirubinemia, hypercholesterolemia, increased alkaline phosphatase, and a moderate increase in blood transaminase activity.

This pattern is usually observed until the 10th week of life and spontaneously disappears at the end of the first half of the year. In the future, cirrhosis of the liver with its typical manifestations or often recurrent jaundice with itching and severe hypercholesterolemia may develop.

In the pulmonary form, a picture of progressive emphysema most often occurs, but recurrent obstructive syndrome, recurrent bronchitis, and repeated pneumonia can be observed.

The diagnosis is established on the basis of medical history, clinical symptoms, and detection of low levels of ots-antitrypsin. Differential diagnosis is carried out with biliary atresia, jaundice of various origins, and immunodeficiency diseases.

Treatment: There is no specific therapy. In the presence of infection - active antibacterial therapy.

The prognosis is unfavorable.