Frenkel-Rutenberg, Tal and Dagan, Amir and Lotan, Eyal and Lotan, Dor and Segal, Gad (2015) Is There More to This Case than Mere Pulmonary Alveolar Proteinosis? A Clinical Case Presentation. European Journal of Case Reports in Internal Medicine, 2 (3). pp. 1-3. ISSN 2284-2594
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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.
| Item Type: | Article |
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| Uncontrolled Keywords: | Pulmonary alveolar proteinosis, GATA2, miscarriage, myelodysplasia syndrome, surfactant |
| Subjects: | 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) > 616 Malattie (classificare qui la Clinica medica, la medicina basata sull'evidenza, la Medicina interna, la Medicina sperimentale) > 616.2 Malattie del sistema respiratorio |
| Depositing User: | Chiara D'Arpa |
| Date Deposited: | 13 Sep 2016 16:22 |
| Last Modified: | 13 Sep 2016 16:22 |
| URI: | http://eprints.bice.rm.cnr.it/id/eprint/15021 |
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