Hereditary lung diseases can affect the airways, parenchyma and vasculature of the lung.
Such diseases comprehend simple monogenic disorders such as Kartagener syndrome and
α1-antitrypsin deficiency, in which mutations of critical genes are sufficient to induce well‐defined
disease phenotypes. A major comprehension of the genetic basis of pulmonary diseases has produced
new investigations into their underlying pathophysiology and contributed sometimes to clarify on
more frequent sporadic forms. The presence of these structural abnormalities of the respiratory tract
can be fatal, so that the identification of causative genes has allowed prenatal diagnosis for many
diseases giving a greater hope of survival thanks to a more adequate and prompt management.
Keywords: Airways diseases, alpha-1 antitrypsin deficiency, asthma, cystic fibrosis, dyskinesia, hereditary lung diseases,
kartagener syndrome, respiratory tract.
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