Adaptation to breathing air at birth requires cellular processes to initiate fluid clearance and to synthesize and secrete pulmonary surfactant into alveoli. Some alleles and genotypes of surfactant protein A increase predisposition to neonatal lung disease. Deletions or mutations in surfactant proteins B and C cause acute and chronic lung disease in neonates and infants. Normal lamellar body formation requires surfactant protein B and a member of the ATP-binding cascade (ABC) family of ATP-dependent membrane-associated transport proteins, ABCA3. Mutations in ABCA3 cause fatal respiratory disease in newborn infants. The epithelial Na⁺ channel (ENaC) contributes to the clearance of fetal lung liquid. In animal models, low ENaC activity and low expression level of alpha-ENaC have been associated with respiratory failure. However, the polymorphism in the alpha-ENaC gene remains to be studied as a factor explaining the variation in the incidence of transient tachypnea or respiratory distress syndrome in the newborn. Neonatal lung diseases may have a genetic background that is influenced by environmental, acquired and inherited factors.

Keywords: kalıtsal hastalıklar, akciğer, yenidoğan, inherited diseases, lung, newborn