Respiratory failure in a term newborn due to compound heterozygous ABCA3 mutation: the case report of another lethal variant

被引：7

作者：

Maly, J. ^{[1
]}

Navratilova, M. ^{[1
]}

Hornychova, H. ^{[2
]}

Looman, A. C. ^{[3
]}

机构：

[1] Charles Univ Prague, Univ Hosp Hradec Kralove, Dept Pediat, Fac Med,Div Neonatol, Hradec Kralove 50005, Czech Republic

[2] Charles Univ Prague, Univ Hosp Hradec Kralove, Fingerlands Dept Pathol, Fac Med, Hradec Kralove 50005, Czech Republic

[3] Gene Anal Serv GmbH, Berlin, Germany

来源：

JOURNAL OF PERINATOLOGY | 2014年 / 34卷 / 12期

关键词：

FATAL SURFACTANT DEFICIENCY; INTERSTITIAL LUNG-DISEASE; DISORDERS;

D O I：

10.1038/jp.2014.132

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Inherited disorders of surfactant metabolism are manifested in neonatal period as a severe respiratory failure not responding to exogenous surfactant administration. We illustrate the case of a term newborn with respiratory failure because of compound heterozygous mutation in adenosine triphosphate-binding cassette transporter A3 (ABCA3)-in exon 24 M1227R and in exon 29 Ins1510fs/ter1519. These mutations of ABCA3 have not been described yet and expand the group of lethal ABCA3 variants.

引用

页码：951 / 953

页数：3

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