GTR Home > Conditions/Phenotypes > PULMONARY ALVEOLAR MICROLITHIASIS

Summary

Pulmonary alveolar microlithiasis (PULAM) is a rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. Most patients are asymptomatic for several years or even for decades, and, generally, the diagnosis is incidental to clinical investigations unrelated to the specific disorder. Cases with early onset or rapid progression are rare. A 'sandstorm-appearing' chest roentgenogram is a typical diagnostic finding. The onset of this potentially lethal disease 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 are said to be familial (summary by Corut et al., 2006). [from OMIM]

Available tests

11 tests are in the database for this condition.

Genes See tests for all associated and related genes

  • Also known as: NAPI-3B, NAPI-IIb, NPTIIb, NaPi2b, PULAM, SLC34A2
    Summary: solute carrier family 34 member 2

Clinical features

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