Fatal respiratory failure in a full-term newborn with two ABCA3 gene mutations: a case report
Fatal respiratory failure in a full-term newborn with two ABCA3 gene mutations: a case report
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DOI：
10.1038/jp.2010.122
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发表时间：
2011-01-01
影响因子：
2.9
通讯作者：
Carrera, P.
中科院分区：
文献类型：
--
作者：
Ciantelli, M.;Ghirri, P.;Carrera, P.
与肺表面活性蛋白缺乏相关的基因突变与不同的临床表型相关。表面活性剂蛋白 B 和 C 基因的突变最先被描述。 2004 年，首次报道了由于编码三磷酸腺苷结合盒转运蛋白 A3 (ABCA3) 的基因突变导致新生儿致命的表面活性剂缺乏。迄今为止，很少有致命性三磷酸腺苷结合盒转运蛋白 A3 突变的病例被描述。在我们的报告中，我们描述了一名足月新生儿因罕见的 ABCA3 基因配置继发的呼吸衰竭而死亡。围产期杂志 (2011) 31, 70-72; 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. Journal of Perinatology (2011) 31, 70-72; doi:10.1038/jp.2010.122