Hereditary pulmonary alveolar proteinosis. Could it be triggered by Mycoplasma pneumoniae pneumonia?

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Hereditary pulmonary alveolar proteinosis caused by recessive CSF2RB mutations.

Pulmonary alveolar proteinosis (PAP) is a syndrome characterised by accumulation of surfactant in alveoli resulting in respiratory insufficiency [1]. Surfactant homeostasis is critical for lung function and is tightly regulated, in part, by pulmonary granulocyte-macrophage colony-stimulating factor (GM-CSF), which is required for surfactant clearance by alveolar macrophages [2] and alveolar mac...

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Elderly-onset hereditary pulmonary alveolar proteinosis and its cytokine profile

BACKGROUND Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by surfactant accumulation, and is caused by disruption of granulocyte/macrophage colony-stimulating factor (GM-CSF) signaling. Abnormalities in CSF2 receptor alpha (CSF2RA) were reported to cause pediatric hereditary PAP. We report here the first case of CSF2RA-mutated, elderly-onset hereditary (h) PAP. CASE...

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Pulmonary Alveolar Proteinosis

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Pulmonary 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...

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Pulmonary 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.

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ژورنال

عنوان ژورنال: Respiratory Medicine

سال: 2013

ISSN: 0954-6111

DOI: 10.1016/j.rmed.2012.07.005