Genetic mechanisms of primary lung emphysema

نویسندگان

چکیده

A personalized approach to the treatment of a polygenic disease, such as pulmonary emphysema, provides unique opportunities for selection effective in each clinical case. Progress understanding molecular mechanisms behind emphysema allows take new look at classification, causes phenotype variability, prognosis and preventive measures before manifestation. The aim this review was bring together available data genetic mutations impact lung its endotypes characteristics, determine approaches. Results. attention clinicians diagnosis essential is focused on measurement level α 1 -antitrypsin serum SERPINA1 gene exons 3, 4, 5 6. This important, though not complete information about disease prognosis. routine do into account influence genes-modifiers gene-gene interactions. At same time, intact does guarantee zero risk primary emphysema. To date, wide range defects has been identified. These are capable, varying degree, cause manifestations, severity frequency exacerbations. Conclusion. Wholeexome sequencing with identification affected metabolic pathways makes it possible see portrait endotype select targeted therapy

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ژورنال

عنوان ژورنال: Pul?monologiâ

سال: 2022

ISSN: ['0869-0189', '2541-9617']

DOI: https://doi.org/10.18093/0869-0189-2022-32-4-608-615