Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6242505 | Respiratory Medicine | 2013 | 5 Pages |
Abstract
We present a three-year-old girl with respiratory failure due to hereditary pulmonary alveolar proteinosis caused by abnormal alpha chain of the granulocyte-macrophage colony-stimulating factor receptor. Both the patient and an asymptomatic seven-year-old sister were homozygous for the same mutation in CSF2RA. We speculate that the Mycoplasma pneumoniae pneumonia might have triggered the clinical presentation. While a good response to serial partial lung lavage was noticed, the ultimate outcome is uncertain.
Keywords
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Pulmonary and Respiratory Medicine
Authors
Mikel Santiago-Burruchaga, Rafael Zalacain-Jorge, Jose Alvarez-Martinez, Jose Mari Arguinzoniz-Marzana, Itziar Pocheville-Guruzeta, Miguel Angel Vazquez-Ronco, Armando Gozalo-GarcÃa, Carlos Vazquez-Cordero,