[Respiratory diseases associated to surfactant proteins B and C deficiency].
Pulmonary surfactant is a mixture of lipids and proteins necessary to reduce alveolar surface tension and prevent end expiratory atelectasis. The hydrophobic surfactant proteins B and C are essential for lung function and pulmonary homeostasis after birth. Mutations in the genes encoding surfactant proteins B and C are associated with acute respiratory failure and interstitial lung disease. Diagnosis is possible through DNA analysis from blood leucocytes and immunostaining from lung tissue.
UO Patologia Neonatale, Ospedale Bolognini, Seriate, BG. marco.somaschini@bolognini.bg.it
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D004247:DNA / Q000032:analysis; D006801:Humans; D007231:Infant, Newborn; D007962:Leukocytes / Q000378:metabolism; D017354:Point Mutation / Q000235:genetics; D037701:Pulmonary Surfactant-Associated Protein B / Q000172:deficiency*; D037721:Pulmonary Surfactant-Associated Protein C / Q000172:deficiency*; D012140:Respiratory Tract Diseases / Q000235:genetics* / Q000378:metabolism*
D037701:Pulmonary Surfactant-Associated Protein B; D037721:Pulmonary Surfactant-Associated Protein C; D004247:DNA