ABCA3 deficiency: Neonatal respiratory failure and interstitial lung disease

被引：46

作者：

Bullard, Janine E.

Wert, Susan E.

Nogee, Lawrence M.

机构：

[1] Johns Hopkins Univ, Sch Med, Dept Pediat, Div Neonatol, Baltimore, MD 21205 USA

[2] Univ Cincinnati, Coll Med, Div Neonatol, Cincinnati, OH USA

[3] Univ Cincinnati, Childrens Hosp, Coll Med, Div Pulm Biol,Dept Pediat, Cincinnati, OH USA

来源：

SEMINARS IN PERINATOLOGY | 2006年 / 30卷 / 06期

关键词：

newborn; pulmonary surfactant; respiratory distress syndrome; persistent pulmonary; hypertension of the newborn; pulmonary alveolar proteinosis; desquamative interstitial pneumonitis; chronic pneumonitis of infancy; cellular interstitial pneumonitis;

D O I：

10.1053/j.semperi.2005.12.001

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

ABCA3 is a member of the ATP Binding Cassette family of proteins, transporters that hydrolyze ATP in order to move substrates across biological membranes. Mutations in the gene encoding ABCA3 have been found in children with severe neonatal respiratory disease and older children with some forms of interstitial lung disease. This review summarizes current knowledge concerning clinical, genetic, and pathologic features of the lung disease associated with mutations in the ABCA3 gene, and also briefly reviews some other forms of childhood interstitial lung diseases that have their antecedents in the neonatal period and may also have a genetic basis. © 2006 Elsevier Inc. All rights reserved.

引用

页码：327 / 334

页数：8

共 58 条

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