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

Mikel Santiago-Burruchaga1, Rafael Zalacain-Jorge, Jose Alvarez-Martinez

  • 1Paediatric Pulmonology Unit, Paediatric Department, Hospital Universitario de Cruces, Plaza de Cruces s/n, 48903 Barakaldo, Bizkaia, Spain. MIKEL.SANTIAGOBURRUCHAGA@osakidetza.Net

Respiratory Medicine
|December 5, 2012
PubMed

Insights

A rare genetic mutation in the granulocyte-macrophage colony-stimulating factor receptor (CSF2RA) caused hereditary pulmonary alveolar proteinosis in a child. Lung lavage showed improvement, but the long-term prognosis remains unclear.

Area of Science:

  • Genetics
  • Pulmonology
  • Pediatrics

Background:

  • Hereditary pulmonary alveolar proteinosis (hPAP) is a rare lung disorder.
  • It is often caused by mutations affecting the granulocyte-macrophage colony-stimulating factor (GM-CSF) pathway.
  • Genetic defects in CSF2RA are a known cause of hPAP.

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