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与表面活性物质蛋白C基因突变相关的新生儿呼吸衰竭。

Neonatal respiratory failure associated with mutation in the surfactant protein C gene.

作者信息

Soraisham A S, Tierney A J, Amin H J

机构信息

Division of Neonatology, Department of Pediatrics, Foothills Medical Centre, University of Calgary, Alberta, Canada.

出版信息

J Perinatol. 2006 Jan 1;26(1):67-70. doi: 10.1038/sj.jp.7211417.

DOI:10.1038/sj.jp.7211417
PMID:16355106
Abstract

We report on a term newborn with an unusual presentation and course of a rare lung disease due to mutation in SFTPC gene. This particular SFTPC mutation is novel, and the infant's lung disease was unusually severe compared to what has been previously reported in association with SFTPC mutations.

摘要

我们报告了一名足月儿，因SFTPC基因突变患有罕见肺部疾病，其表现和病程不同寻常。这种特定的SFTPC突变是新发现的，与先前报道的与SFTPC突变相关的情况相比，该婴儿的肺部疾病异常严重。

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