Abstract
Common causes of neonatal respiratory distress include meconium aspiration, pneumonia, persistent pulmonary hypertension of the newborn, pneumothorax and cystic adenomatoid malformation. Genomics and proteomics have enabled the recent recognition of several additional disorders that lead to neonatal death from respiratory disease. These are broadly classified as disorders of lung homeostasis and have pathological features of proteinosis, interstitial pneumonitis or lipidosis. These pathological changes result from inherited disorders of surfactant proteins or granulocyte-macrophage colony stimulating factor. Abnormal lung vascular development is the basis for another cause of fatal neonatal respiratory distress, alveolar capillary dysplasia with or without associated misalignment of veins. Diagnosis of these genetically transmitted disorders is important because of the serious implications for future siblings. There is also a critical need for establishing an archival tissue bank to permit future molecular biological studies.
Copyright 2004 Elsevier Ltd.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
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Review
MeSH terms
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Animals
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Genomics / methods
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Granulocyte-Macrophage Colony-Stimulating Factor / genetics
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Homeostasis
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Humans
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Infant, Newborn
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Lipidoses / pathology
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Lung Diseases / complications
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Lung Diseases / congenital
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Lung Diseases / genetics
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Lung Diseases / pathology*
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Lung Diseases, Interstitial / pathology
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Proteomics / methods
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Pulmonary Alveolar Proteinosis / congenital
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Pulmonary Alveolar Proteinosis / genetics
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Pulmonary Alveolar Proteinosis / pathology
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Pulmonary Surfactant-Associated Protein A / deficiency
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Pulmonary Surfactant-Associated Protein A / genetics
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Pulmonary Surfactant-Associated Protein B / deficiency
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Pulmonary Surfactant-Associated Protein B / genetics
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Pulmonary Surfactant-Associated Protein C / deficiency
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Pulmonary Surfactant-Associated Protein C / genetics
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Pulmonary Surfactant-Associated Protein D / deficiency
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Pulmonary Surfactant-Associated Protein D / genetics
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Pulmonary Veins / abnormalities
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Pulmonary Veins / embryology
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Respiratory Distress Syndrome, Newborn / etiology*
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Respiratory Distress Syndrome, Newborn / pathology
Substances
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Pulmonary Surfactant-Associated Protein A
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Pulmonary Surfactant-Associated Protein B
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Pulmonary Surfactant-Associated Protein C
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Pulmonary Surfactant-Associated Protein D
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Granulocyte-Macrophage Colony-Stimulating Factor