Hereditary pulmonary alveolar proteinosis. Could it be triggered by Mycoplasma pneumoniae pneumonia?

• Published in: Respiratory medicine Vol. 107; no. 1; pp. 134 - 138
• Main Authors: Santiago-Burruchaga, Mikel, Zalacain-Jorge, Rafael, Alvarez-Martinez, Jose, Arguinzoniz-Marzana, Jose Mari, Pocheville-Guruzeta, Itziar, Vazquez-Ronco, Miguel Angel, Gozalo-García, Armando, Vazquez-Cordero, Carlos
• Format: Journal Article
• Language: English
• Published: Kidlington Elsevier Ltd 01-01-2013; Elsevier; Elsevier Limited
• Subjects: Alveoli; Biological and medical sciences; Bronchoalveolar Lavage; Child; Child, Preschool; Female; granulocyte-macrophage colony-stimulating factor receptors; Hereditary pulmonary alveolar proteinosis; Humans; Lung; Medical sciences; Mutation; Mycoplasma pneumoniae; Partial lung lavage; Pedigree; Pneumology; Pneumonia; Pneumonia, Mycoplasma - complications; Pulmonary Alveolar Proteinosis - diagnostic imaging; Pulmonary Alveolar Proteinosis - genetics; Pulmonary Alveolar Proteinosis - microbiology; Pulmonary Alveolar Proteinosis - therapy; Pulmonary/Respiratory; Receptors, Granulocyte-Macrophage Colony-Stimulating Factor - genetics; Respiratory system : syndromes and miscellaneous diseases; Tomography, X-Ray Computed; Mycoplasma pneumoniae; Hereditary pulmonary alveolar proteinosis; Partial lung lavage; Lung disease; Pneumonia; Respiratory disease; Lung; Mycoplasmataceae; Mollicutes; Mycoplasmatales; Trigger; Partial; Pulmonary alveolar proteinosis; Bacteria; Pneumology
• ISSN: 0954-6111; 1532-3064
• DOI: 10.1016/j.rmed.2012.07.005

Summary 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.