The importance of surfactant on the development of neonatal pulmonary diseases.
Pulmonary surfactant is a substance composed of a lipoprotein complex that is essential to pulmonary function. Pulmonary surfactant proteins play an important role in the structure, function, and metabolism of surfactant; 4 specific surfactant proteins have been identified: surfactant proteins-A, surfactant proteins-B, surfactant proteins-C, and surfactant proteins-D. Clinical, epidemiological, and biochemical evidence suggests that the etiology of respiratory distress syndrome is multifactorial with a significant genetic component. There are reports about polymorphisms and mutations on the surfactant protein genes, especially surfactant proteins-B, that may be associated with respiratory distress syndrome, acute respiratory distress syndrome, and congenital alveolar proteinosis. Individual differences regarding respiratory distress syndrome and acute respiratory distress syndrome as well as patient response to therapy might reflect phenotypic diversity due to genetic variation, in part. The study of the differences between the allelic variants of the surfactant protein genes can contribute to the understanding of individual susceptibility to the development of several pulmonary diseases. The identification of the polymorphisms and mutations that are indeed important for the pathogenesis of the diseases related to surfactant protein dysfunction, leading to the possibility of genotyping individuals at increased risk, constitutes a new research field. In the future, findings in these endeavors may enable more effective genetic counseling as well as the development of prophylactic and therapeutic strategies that would provide a real impact on the management of newborns with respiratory distress syndrome and other pulmonary diseases.
Lyra
Priscila Pinheiro Ribeiro
PP
Department of Neonatology, Hospital das Clínicas, Medical School, São Paulo UniversitySão Paulo, SP, Brazil. priscilalyra@yahoo.com
Diniz
Edna Maria de Albuquerque
EM
D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D011110:Polymorphism, Genetic; D011649:Pulmonary Alveolar Proteinosis / Q000235:genetics / Q000378:metabolism; D037662:Pulmonary Surfactant-Associated Protein A / Q000172:deficiency; D037701:Pulmonary Surfactant-Associated Protein B / Q000172:deficiency; D037721:Pulmonary Surfactant-Associated Protein C / Q000172:deficiency; D037663:Pulmonary Surfactant-Associated Protein D / Q000172:deficiency; D037661:Pulmonary Surfactant-Associated Proteins / Q000235:genetics* / Q000378:metabolism; D011663:Pulmonary Surfactants / Q000378:metabolism*; D012127:Respiratory Distress Syndrome, Newborn / Q000235:genetics* / Q000378:metabolism
D037662:Pulmonary Surfactant-Associated Protein A; D037701:Pulmonary Surfactant-Associated Protein B; D037721:Pulmonary Surfactant-Associated Protein C; D037663:Pulmonary Surfactant-Associated Protein D; D037661:Pulmonary Surfactant-Associated Proteins; D011663:Pulmonary Surfactants