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

Respir Med. 2013 Jan;107(1):134-8. doi: 10.1016/j.rmed.2012.07.005. Epub 2012 Dec 1.


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.

Publication types

  • Case Reports

MeSH terms

  • Bronchoalveolar Lavage
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Mutation
  • Pedigree
  • Pneumonia, Mycoplasma / complications*
  • Pulmonary Alveolar Proteinosis / diagnostic imaging
  • Pulmonary Alveolar Proteinosis / genetics
  • Pulmonary Alveolar Proteinosis / microbiology*
  • Pulmonary Alveolar Proteinosis / therapy
  • Receptors, Granulocyte-Macrophage Colony-Stimulating Factor / genetics
  • Tomography, X-Ray Computed


  • CSF2RA protein, human
  • Receptors, Granulocyte-Macrophage Colony-Stimulating Factor