rs1573858 GATA-2 homozygote variant associated with pulmonary alveolar proteinosis, cytopenia and neurologic dysfunction
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چکیده
منابع مشابه
Pulmonary Alveolar Proteinosis
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متن کاملPulmonary alveolar proteinosis.
Pulmonary alveolar proteinosis (PAP) is a rare pulmonary disease characterised by alveolar accumulation of surfactant. It may result from mutations in surfactant proteins or granulocyte macrophage-colony stimulating factor (GM-CSF) receptor genes, it may be secondary to toxic inhalation or haematological disorders, or it may be auto-immune, with anti-GM-CSF antibodies blocking activation of alv...
متن کاملPulmonary alveolar proteinosis.
Pulmonary alveolar proteinosis is a rare cause of respiratory distress in neonates. We present a 4 month old infant who presented with progressive respiratory distress since birth and failure to thrive. He was initially treated as a case of diffuse alveolar disease but on open lung biopsy was diagnosed as pulmonary alveolar proteinosis. The child expired at 7 months of age.
متن کاملPrimary pulmonary alveolar proteinosis.
INTRODUCTION Pulmonary alveolar proteinosis is an uncommon disease characterized by the accumulation of surfactant proteins and phospholipids within the alveolar spaces. Acquired disease can be idiopathic (primary) and secondary. The prevalence of acquired pulmonary alveolar proteinosis is about 0.37 per 100,000 persons. Common symptoms are dyspnea and cough. Chest X-ray shows bilateral perihil...
متن کاملPulmonary Alveolar Proteinosis
2009;136;571-577 Chest Sara R. Greenhill and Darrell N. Kotton Pulmonary Alveolar Proteinosis http://chestjournal.chestpubs.org/content/136/2/571.full.html and services can be found online on the World Wide Web at: The online version of this article, along with updated information ISSN:0012-3692 ) http://chestjournal.chestpubs.org/site/misc/reprints.xhtml ( of the copyright holder. may be repro...
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ژورنال
عنوان ژورنال: Pulmonology
سال: 2020
ISSN: 2531-0437
DOI: 10.1016/j.pulmoe.2019.09.008