| Literature DB >> 23206404 |
Mikel Santiago-Burruchaga1, Rafael Zalacain-Jorge, Jose Alvarez-Martinez, Jose Mari Arguinzoniz-Marzana, Itziar Pocheville-Guruzeta, Miguel Angel Vazquez-Ronco, Armando Gozalo-García, Carlos Vazquez-Cordero.
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.Entities:
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Year: 2012 PMID： 23206404 DOI： 10.1016/j.rmed.2012.07.005
Source DB: PubMed Journal: Respir Med ISSN： 0954-6111 Impact factor: 3.415