Is There More to This Case than Mere Pulmonary Alveolar Proteinosis? A Clinical Case Presentation
KeywordsPulmonary alveolar proteinosis, GATA2, miscarriage, myelodysplasia syndrome, surfactant
Introduction: Pulmonary alveolar proteinosis (PAP) is a rare disease, associated with excess accumulation of surfactant proteins and lipids in the alveoli.
Clinical presentation: We report the case of a 46-year-old woman with a combined presentation of PAP, myelodysplasia and recurrent miscarriages.
Conclusions: The concomitant presentation of the above might be compatible with a mutation of the haematopoietic transcription factor gene GATA2.
Issue: Vol 2 No 3 (2015) (view)