Pulmonary alveolar microlithiasis (PAM) is a rare, inherited disorder of lung phosphate balance that is associated with small stone formation in the airspaces of the lung. Mutations in the gene SLC34A2 result in loss of a key sodium, phosphate co-transporter (called Npt2b), known to be expressed in distal airway epithelial alveolar type II cells, as well as in the mammary gland, and to a lesser extent in intestine, kidney, skin, prostate and testes. Late appearing symptoms include:
• dry cough
• chest pain
• sporadic hemoptysis
HOW IS PULMONARY ALVEOLAR MICROLITHIASIS DIAGNOSED?
This condition is diagnosed during a routine chest X ray. To confirm the diagnosis a pulmonologist may order a supportive CT or MRI scan
HOW IS PULMONARY ALVEOLAR MICROLITHIASIS TREATED?
Although no treatment effectively prevents the progression of Pulmonary Alveolar Microlithiasis, however, lung transplantation is an option for end stage disease.
DID YOU KNOW?
Pulmonary Alveolar Microlithiasis is typically diagnoses before the age of 40.