先天性表面活性物质缺乏导致的不明原因新生儿呼吸窘迫。
Unexplained neonatal respiratory distress due to congenital surfactant deficiency.
作者信息
Somaschini Marco, Nogee Lawrence M, Sassi Isabella, Danhaive Olivier, Presi Silvia, Boldrini Renata, Montrasio Cristina, Ferrari Maurizio, Wert Susan E, Carrera Paola
机构信息
Division of Neonatology, Bolognini Hospital, Seriate, Italy.
出版信息
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。
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