Keywords
Pulmonary alveolar proteinosis, GATA2, miscarriage, myelodysplasia syndrome, surfactant
Abstract
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.
References
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Published:
2015-06-29
Issue:
Vol. 2 No. 3 (2015)
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