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新生儿呼吸衰竭与表面活性蛋白 C 基因突变有关。

Neonatal respiratory failure due to a novel mutation in the surfactant protein C gene.

机构信息

Department of Pediatrics, Drexel University College of Medicine, Philadelphia, PA 19134, USA.

出版信息

J Perinatol. 2010 Feb;30(2):151-3. doi: 10.1038/jp.2009.97.

DOI:10.1038/jp.2009.97
PMID:20118944
Abstract

A full-term infant developed respiratory distress immediately after birth, requiring a prolonged course of extra-corporeal membrane oxygenation, followed by high-frequency ventilation. She was unable to wean off mechanical ventilation, required tracheostomy, and ultimately lung transplantation. A novel mutation in the surfactant C protein gene was identified as the cause of her lung disease.

摘要

一名足月产婴儿出生后立即出现呼吸窘迫，需要长时间接受体外膜肺氧合治疗，随后进行高频通气。她无法脱离机械通气，需要进行气管切开术，最终进行了肺移植。一种新型的表面活性剂 C 蛋白基因突变被确定为其肺部疾病的原因。

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