Title |
Interstitial lung disease in children – genetic background and associated phenotypes
|
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Published in |
Respiratory Research, April 2005
|
DOI | 10.1186/1465-9921-6-32 |
Pubmed ID | |
Authors |
Dominik Hartl, Matthias Griese |
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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Geographical breakdown
Country | Count | As % |
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Portugal | 1 | 3% |
Unknown | 32 | 94% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 8 | 24% |
Student > Master | 6 | 18% |
Student > Doctoral Student | 5 | 15% |
Student > Ph. D. Student | 5 | 15% |
Professor | 3 | 9% |
Other | 4 | 12% |
Unknown | 3 | 9% |
Readers by discipline | Count | As % |
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Biochemistry, Genetics and Molecular Biology | 4 | 12% |
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Neuroscience | 2 | 6% |
Immunology and Microbiology | 1 | 3% |
Other | 2 | 6% |
Unknown | 3 | 9% |