[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.
Somaschini
M
M
UO Patologia Neonatale, Ospedale Bolognini, Seriate, BG. marco.somaschini@bolognini.bg.it
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