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The genetic factor of the formation of lung diseases. MCSC patient history


Patient I., 50 years old, was admitted to the Pulmonology department of the MCSC named after A.S. Loginov with complaints of:

  • shortness of breath during self-service;
  • cough with separation of thick yellow-green sputum.

Until 2000, the man smoked, but quit after he had a drainage of the pleural cavity to remove air accumulation, and was diagnosed with multiple bilateral bronchiectasis. Since 2017, he has been diagnosed with chronic obstructive pulmonary disease (COPD).

In the pulmonology department of the Center, specialists conducted a comprehensive examination of the body, including all the necessary methods of laboratory and instrumental diagnostics, consultations of a geneticist and a hepatologist.

In the study of the function of external respiration, the difficulty of exhalation and breathing in general was determined.  Also, laboratory blood tests revealed an increased level of indicators that are involved in the development of allergic reactions (bronchial asthma, etc.). Washing off the walls of the bronchi revealed a mold fungus that causes severe lung disease – aspergillosis. According to computed tomography of the lungs, pulmonary emphysema and bronchiectasis were diagnosed.

The doctors of the Center appointed a study of the quantitative level of alpha-1-antitrypsin (A1AT). This protein, produced by liver cells, provides 90% protection against enzymes that destroy lung tissue when exposed to provoking factors (smoking, dust, etc.) In addition, this protein has anti-inflammatory, immunomodulatory, antioxidant and bactericidal and other properties. Its deficiency leads to a decrease in the activity of antiviral drugs and the development of air permeability disorders in the bronchi, pulmonary emphysema, liver damage.

At the time of hospitalization, the patient had no A1AT deficiency. After examination of the liver, pathology was also not noted.

However, genetic testing revealed a rare mutation of the SERPINA1 gene, which reduces the production of A1AT protein by 80%, especially when exposed to provoking factors (smoking). Since this protein is characterized by the variability of secretion during periods of exacerbation of the underlying disease and the season, the patient needs to constantly monitor the level of A1AT. In case of reduction, it is necessary to resolve the issue of substitution therapy.

The revealed genetic mutation and smoking explain the severe lung damage in the patient, which was complicated by bacterial and fungal infection, chronic respiratory failure.

Positive dynamics has been achieved against the background of drug therapy. The patient was discharged in a satisfactory condition with recommendations for further treatment, lifestyle, and the need for genetic examination of children.

The joint work of the Center's specialists (pulmonologists, geneticists, hepatologists, endoscopists, doctors of radiation, laboratory and functional diagnostics) made it possible to make the correct diagnosis and determine treatment tactics in a short time.

GBUZ Moscow Clinical Scientific Center named after Loginov MHD