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Pulmonary Alveolar Microlithiasis MeSH Supplementary Concept Data 2024


MeSH Supplementary
Pulmonary Alveolar Microlithiasis
Unique ID
C562405
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C562405
Registry Number
0
Heading Mapped to
*Calcinosis
*Lung Diseases
*Genetic Diseases, Inborn
Frequency
117
Note
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 of Entry
2012/11/05
Revision Date
2015/08/18
Pulmonary Alveolar Microlithiasis Preferred
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