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Respiratory Research
Published in: Respiratory Research 1/2005

Open Access 01-12-2005 | Review

Interstitial lung disease in children – genetic background and associated phenotypes

Authors: Dominik Hartl, Matthias Griese

Published in: Respiratory Research | Issue 1/2005

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Abstract

Interstitial lung disease in children represents a group of rare chronic respiratory disorders. There is growing evidence that mutations in the surfactant protein C gene play a role in the pathogenesis of certain forms of pediatric interstitial lung disease. Recently, mutations in the ABCA3 transporter were found as an underlying cause of fatal respiratory failure in neonates without surfactant protein B deficiency. Especially in familiar cases or in children of consanguineous parents, genetic diagnosis provides an useful tool to identify the underlying etiology of interstitial lung disease. The aim of this review is to summarize and to describe in detail the clinical features of hereditary interstitial lung disease in children. The knowledge of gene variants and associated phenotypes is crucial to identify relevant patients in clinical practice.
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Metadata
Title
Interstitial lung disease in children – genetic background and associated phenotypes
Authors
Dominik Hartl
Matthias Griese
Publication date
01-12-2005
Publisher
BioMed Central
Published in
Respiratory Research / Issue 1/2005
Electronic ISSN: 1465-993X
DOI
https://doi.org/10.1186/1465-9921-6-32

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