Abstract
This case report describes an unusual outcome of ABCA3 deficiency with resolution of symptoms, normalization of chest imaging and lung function in a 9-year-old child whose sibling died of the same disease in infancy.
Keywords:
ABCA3; pediatric; respiratory.
© 2013 Wiley Periodicals, Inc.
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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ATP-Binding Cassette Transporters / deficiency*
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ATP-Binding Cassette Transporters / genetics
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Child, Preschool
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Fatal Outcome
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Humans
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Lung Diseases, Interstitial / diagnosis*
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Lung Diseases, Interstitial / drug therapy
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Lung Diseases, Interstitial / genetics
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Male
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Prognosis
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Pulmonary Alveolar Proteinosis / diagnosis*
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Pulmonary Alveolar Proteinosis / drug therapy
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Pulmonary Alveolar Proteinosis / genetics
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Respiratory Function Tests
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Siblings
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Tomography, X-Ray Computed
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Treatment Outcome
Substances
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ABCA3 protein, human
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ATP-Binding Cassette Transporters
Supplementary concepts
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Surfactant Metabolism Dysfunction, Pulmonary, 3