Pulmonary Alveolar Microlithiasis [Supplementary Concept]
A rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. Most patients are asymptomatic for many years and microliths are found incidentally during an unrelated examination. A 'sandstorm-appearing' chest X-ray is a typical diagnostic finding. Onset varies from the neonatal period to old age, and the disease follows a long-term progressive course, resulting in a slow deterioration of lung functions. About one-third of the reported cases may be familial with autosomal recessive inheritance. Mutations in the SLC34A2 gene have been identified. OMIM: 265100
Date introduced: November 5, 2012
MeSH Unique ID: C562405
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