Наука и Здравоохранение

Introduction. Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that manifests as pulmonary emphysema, liver cirrhosis and, rarely, as the skin disease panniculitis, and is characterized by low serum levels of AAT, the main protease inhibitor (PI) in human serum. The prevalence in Western Europe and in the USA is estimated at approximately 1 in 2,500 and 1 : 5,000 newborns, and is highly dependent on the Scandinavian descent within the population.

Chronic obstructive pulmonary disease (COPD) is one of the most essential causes of morbidity and mortality. In 2008, COPD was the fourth leading cause of death in the world, but the number of patients is still increasing and the World Health Organization (WHO) predicts that COPD will get the third most common cause of mortality in 2030.

The Aim. To acquaint the students and specialists of practical healthcare with a genetic disease, deficiency of alpha-1-antitrypsin

Меthods. The study of publications on this subject included in the evidentiary basis the Cochrane Library EMBASE and MEDLINE, databases during the last 30 years.

Results. The most common deficiency alleles in North Europe are PI Z and PI S, and the majority of individuals with severe AATD are PI type ZZ. Type ZZ and SZ AATD are risk factors for the development of respiratory symptoms (dyspnoea, coughing), early onset emphysema, and airflow obstruction early in adult life. Environmental factors such as cigarette smoking, and dust exposure are additional risk factors and have been associated to an accelerated progression of this condition. AATD is caused by mutations in the SERPINA 1 gene encoding AAT, and is inherited as an autosomal recessive trait. The diagnosis can be established by detection of low serum levels of AAT and isoelectric focusing, PCR. For treatment of lung disease, intravenous alpha-1-antitrypsin augmentation therapy, annual flu vaccination and a pneumococcal vaccine every 5 years are recommended. Relief of breathlessness may be obtained with long-acting bronchodilators and inhaled corticosteroids. The end-stage lung disease can be treated by organ transplantation.

Conclusions. Preventive measures, such as smoking cessation, avoiding contact with pollutants, vaccine prevention of infections are measures that reduce the rate of progression of the disease. It is advisable to pre-clinical diagnostic of alpha1-antitrypsin deficiency that could determine the choice of occupation, place of residence, the lifestyle of an individual.