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Two Mutations in Surfactant Protein C Gene Associated with Neonatal Respiratory Distress

机译：与新生儿呼吸窘迫相关的表面活性蛋白C基因的两个突变。

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Multiple mutations of surfactant genes causing surfactant dysfunction have been described. Surfactant protein C (SP-C) deficiency is associated with variable clinical manifestations ranging from neonatal respiratory distress syndrome to lethal lung disease. We present an extremely low birth weight male infant with an unusual course of respiratory distress syndrome associated with two mutations in the SFTPC gene: C43-7G>A and 12T>A. He required mechanical ventilation for 26 days and was treated with 5 subsequent doses of surfactant with temporary and short-term efficacy. He was discharged at 37 weeks of postconceptional age without any respiratory support. During the first 16 months of life he developed five respiratory infections that did not require hospitalization.Conclusion. This mild course in our patient with two mutations is peculiar because the outcome in patients with a single SFTPC mutation is usually poor.
机译：已经描述了导致表面活性剂功能障碍的表面活性剂基因的多个突变。表面活性蛋白C（SP-C）缺乏与多种临床表现相关，从新生儿呼吸窘迫综合征到致命的肺部疾病。我们介绍了一个极低出生体重的男婴，其呼吸窘迫综合征病程异常，与SFTPC基因的两个突变相关：C43-7G> A和12T> A。他需要机械通气26天，并接受了5次后续剂量的表面活性剂治疗，具有暂时和短期的疗效。他在受孕后37周出院，没有任何呼吸支持。在生命的前16个月中，他发生了五种不需要住院的呼吸道感染。我们的两个突变患者的这种轻度病程是特有的，因为单个SFTPC突变患者的预后通常较差。

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