title: Hereditary pulmonary alveolar proteinosis. Could it be triggered by Mycoplasma pneumoniae pneumonia?
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.
authors.affiliation: Paediatric Pulmonology Unit, Paediatric Department, Hospital Universitario de Cruces, Plaza de Cruces s/n, 48903 Barakaldo, Bizkaia, Spain. MIKEL.SANTIAGOBURRUCHAGA@osakidetza.Net
authors.forename: Mikel
authors.initials: M
authors.lastname: Santiago-Burruchaga
authors.forename: Rafael
authors.initials: R
authors.lastname: Zalacain-Jorge
authors.forename: Jose
authors.initials: J
authors.lastname: Alvarez-Martinez
authors.forename: Jose Mari
authors.initials: JM
authors.lastname: Arguinzoniz-Marzana
authors.forename: Itziar
authors.initials: I
authors.lastname: Pocheville-Guruzeta
authors.forename: Miguel Angel
authors.initials: MA
authors.lastname: Vazquez-Ronco
authors.forename: Armando
authors.initials: A
authors.lastname: Gozalo-García
authors.forename: Carlos
authors.initials: C
authors.lastname: Vazquez-Cordero
mesh_terms: D018893:Bronchoalveolar Lavage; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D009154:Mutation; D010375:Pedigree; D011019:Pneumonia, Mycoplasma / Q000150:complications*; D011649:Pulmonary Alveolar Proteinosis / Q000000981:diagnostic imaging / Q000235:genetics / Q000382:microbiology* / Q000628:therapy; D016187:Receptors, Granulocyte-Macrophage Colony-Stimulating Factor / Q000235:genetics; D014057:Tomography, X-Ray Computed
chemical_list: C521678:CSF2RA protein, human; D016187:Receptors, Granulocyte-Macrophage Colony-Stimulating Factor