Pulmonary alveolar proteinosis
| Pulmonary alveolar proteinosis | |
|---|---|
 |
|
| Micrograph of pulmonary alveolar proteinosis, showing the characteristic airspace filling with focally dense globs referred to as chatter or dense bodies. H&E stain. | |
| Classification and external resources | |
| Specialty | pulmonology |
| ICD-10 | J84.0 |
| ICD-9-CM | 516.0 |
| OMIM | 265120 610913 610921 610910 |
| DiseasesDB | 29642 |
| MedlinePlus | 000114 |
| eMedicine | article/300615 |
| MeSH | D011649 |
Pulmonary alveolar proteinosis (abbreviated PAP), is a rare lung disease in which abnormal accumulation of pulmonary surfactant occurs within the alveoli, interfering with gas exchange. PAP can occur in a primary form or secondarily in the settings of malignancy (especially in myeloid leukemia), pulmonary infection, or environmental exposure to dusts or chemicals. Rare familial forms have also been recognized, suggesting a genetic component in some cases.
The symptoms of PAP include:
The clinical course of PAP is unpredictable. Spontaneous remission is recognized; some patients have stable symptoms. Death may occur due to progression of PAP or due to the underlying disease associated with PAP. Individuals with PAP are more vulnerable to infection of the lung by bacteria or fungi.
Although the cause of PAP remains obscure, a major breakthrough in the understanding of the etiology of the disease came by the chance observation that mice bred for experimental study to lack a hematologic growth factor known as granulocyte-macrophage colony stimulating factor (GM-CSF) developed a pulmonary syndrome of abnormal surfactant accumulation resembling human PAP.
The implications of this finding are still being explored, but significant progress was reported in February, 2007. Researchers in that report discussed the presence of anti-GM-CSF autoantibodies in patients with PAP, and duplicated that syndrome with the infusion of these autoantibodies into mice.
Abnormalities in CSF2 receptor alpha have been shown to cause hereditary pulmonary alveolar proteinosis. This gene is located on chromosome 5 in the 5q31 region. This gene product is also known as granulocyte macrophage colony-stimulating factor receptor.
...
Wikipedia