Division of Neonatology, University of Pisa, Santa Chiara Hospital, Pisa, Italy.
J Perinatol. 2011 Jan;31(1):70-2. doi: 10.1038/jp.2010.122.
Genetic mutations associated with pulmonary surfactant protein deficiency are associated with diverse clinical phenotypes. Mutations of the surfactant protein B and C genes were the first to be described. In 2004, fatal surfactant deficiency in newborns due to mutations of the gene encoding the adenosine triphosphate-binding cassette transporter A3 (ABCA3) was first reported. Few cases of lethal adenosine triphosphate-binding cassette transporter A3 mutations have been described to date. In our report, we describe a full-term newborn that died because of respiratory failure secondary to an uncommon ABCA3 genetic configuration.
与肺表面活性蛋白缺乏相关的基因突变与多种临床表型相关。表面蛋白 B 和 C 基因的突变首先被描述。2004 年，首次报道了由于编码三磷酸腺苷结合盒转运体 A3（ABCA3）的基因突变导致新生儿致命性表面活性剂缺乏症。迄今为止，已有少数致命性 ABCA3 基因突变病例被描述。在我们的报告中，我们描述了一例因呼吸衰竭而死亡的足月新生儿，其病因是一种罕见的 ABCA3 遗传构型。
