Is There More to This Case than Mere Pulmonary Alveolar Proteinosis? A Clinical Case Presentation
  • Tal Frenkel-Rutenberg
    Internal Medicine T, Chaim Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel
  • Amir Dagan
    Internal Medicine T, Chaim Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel
  • Eyal Lotan
    Internal Medicine T, Chaim Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel
  • Dor Lotan
    Internal Medicine "T", Chaim Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.
  • Gad Segal
    Internal Medicine "T", Chaim Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.

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.

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References

  • Wang T, Lazar CA, Fishbein MC, Lynch JP, 3rd. Pulmonary alveolar proteinosis. Semin Respir Crit Care Med 2012;33:498–508.
  • Borie R, Danel C, Debray MP, Taille C, Dombret MC, Aubier M, et al. Pulmonary alveolar proteinosis. Eur Respir Rev 2011;20:98–107.
  • Spinner MA, Sanchez LA, Hsu AP, Shaw PA, Zerbe CS, Calvo KR, et al. GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Blood 2014;123:809–821.
  • Handa T, Nakatsue T, Baba M, Takada T, Nakata K, Ishii H. Clinical features of three cases with pulmonary alveolar proteinosis secondary to myelodysplastic syndrome developed during the course of Behcet's disease. Respir Investig 2014;52:75–79.
  • Cuellar-Rodriguez J, Gea-Banacloche J, Freeman AF, Hsu AP, Zerbe CS, Calvo KR, et al. Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency. Blood 2011;118:3715–3720.
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    Published: 2015-06-29
    Issue: Vol. 2 No. 3 (2015) (view)


    How to cite:
    1.
    Frenkel-Rutenberg T, Dagan A, Lotan E, Lotan D, Segal G. Is There More to This Case than Mere Pulmonary Alveolar Proteinosis? A Clinical Case Presentation. EJCRIM 2015;2 doi:10.12890/2015_000210.