Çocuk Sağlığı ve Hastalıkları Dergisi 2006 , Vol 49 , Num 3
Inherited lung disorders in newborn infants
Murat Yurdakök
Hacettepe Üniversitesi Tıp Fakültesi Pediatri Profesörü Yurdakök M. (Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey). Inherited lung disorders in newborn infants. Çocuk Sağlığı ve Hastalıkları Dergisi 2006; 49: 229-246.

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. Anahtar Kelimeler : kalıtsal hastalıklar, akciğer, yenidoğan, inherited diseases, lung, newborn

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