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Condition report · Respiratory

Pulmonary Alveolar Microlithiasis

A rare inherited lung disease in which tiny calcium-phosphate stones build up in the air sacs of the lungs, often progressing slowly over many years. It is caused by changes in the SLC34A2 gene.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

Autosomal recessive

Gradual build-up of microscopic calcium-phosphate deposits in the alveoli caused by loss of the SLC34A2 phosphate transporter, which may cause no symptoms for years before reducing lung function.

What a diagnosis changes

Knowing can support an earlier diagnosis, regular lung function monitoring and, for carriers, information for family planning.

Genes analysed

MONDO:0009928OMIM 265100Orphanet 60025MedGen 56374

Limitations

  • Large deletions in SLC34A2 have been reported; these need copy-number analysis and may not be detected.

Other respiratory conditions

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