Somaschini Marco, Nogee Lawrence M, Sassi Isabella, Danhaive Olivier, Presi Silvia, Boldrini Renata, Montrasio Cristina, Ferrari Maurizio, Wert Susan E, Carrera Paola
Division of Neonatology, Bolognini Hospital, Seriate, Italy.
J Pediatr. 2007 Jun;150(6):649-53, 653.e1. doi: 10.1016/j.jpeds.2007.03.008.
Genetic abnormalities of pulmonary surfactant were identified by DNA sequence analysis in 14 (12 full-term, 2 preterm) of 17 newborn infants with fatal respiratory distress of unknown etiology. Deficiency of adenosine triphosphate-binding cassette protein, member A3 (n = 12) was a more frequent cause of this phenotype than deficiency of surfactant protein B (n = 2).
通过DNA序列分析，在17例病因不明的致命性呼吸窘迫新生儿中，有14例（12例足月儿，2例早产儿）发现了肺表面活性物质的基因异常。三磷酸腺苷结合盒蛋白A3缺乏（n = 12）比表面活性物质蛋白B缺乏（n = 2）更常导致这种表型。
