Аннотация:The diagnosis of orphan lung diseases often requires specific tests, and treatment is difficult due to problems in understanding the mechanisms of disease development and low incidence. When a therapy is developed, it is very expensive. The aim of the article was to present modern approaches for the genetic diagnosis of hereditary respiratory diseases. Conclusion. A physician of any specialty can encounter an orphan disease in clinical practice. The emergence of new methods for the maintenance and targeted therapy of orphan lung diseases necessitates allertness of both pediatric and adult pulmonologists. Competent management of such patients requires knowledge of the basics of genetics and the modern possibilities of DNA diagnostics, as well as close interdisciplinary cooperation between physicians of different specialties and laboratories.
