TY - JOUR T1 - 欧洲呼吸杂志JO - - EUR呼吸杂志SP - 985 LP - 987 DO - 10.1183 / 09031936.00155310 VL - 在子杂合1549C→GAA（121ins2）表面活性剂蛋白B JF的突变间质性肺病38是- 4 AU - Rossi, F.P. AU - Salerno, T. AU - Peca, D. AU - Danhaive, O. AU - Boldrini, R. AU - Menchini, L. AU - Cutrera, R. Y1 - 2011/10/01 UR - //www.qdcxjkg.com/content/38/4/985.abstract N2 - To the Editors:The SFTPB gene encodes the hydrophobic pulmonary surfactant protein (SP)-B, which is essential for the build-up of the surfactant layer and lowering of surface tension in the airways. SP-B deficiency was the first reported genetic cause of lethal respiratory distress syndrome (RDS) in infants in 1993 [1].The phenotype of infants with hereditary SP-B deficiency is of a typically full-term neonate with respiratory failure in the first 24–48 h of life; diagnosis can be delayed, as affected infants may show initially mild symptoms and not require ventilation or further medical support for some time. Chest radiography shows a bilateral, wide ground-glass pattern consistent with a diagnosis of hyaline membrane disease. Typical histological findings are the presence of periodic acid–Schiff-positive eosinophilic material in the alveoli, epithelial cell desquamation, enlarged alveolar macrophages with lamellar inclusions and accumulation of SP-A [2]. Since SP-B was found to be essential for the proteolytic processing of pro-SP-C, newborns with hereditary SP-B deficiency show aberrantly processed SP-C in the intra-alveolar lumen. Lung disease is rapidly progressive and fatal respiratory failure finally sets in within 3–6 months; lung transplantation is suggested as the only effective treatment. To our knowledge, heterozygous mutation has not previously been reported to cause clinical symptoms.A 6-month-old male was admitted to the Bronchopneumology … ER -