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Article

Pulmonary alveolar microlithiasis. State-of-the-art review.

Respiratory medicine - 1 Jan 2013

Ferreira Francisco Flávia Angélica, Pereira e Silva Jorge Luiz, Hochhegger Bruno, Zanetti Gláucia, Marchiori Edson

Abstract excerpt

Pulmonary alveolar microlithiasis (PAM) is a rare genetic lung disease characterized by calcifications within the alveoli. Mutations in the SLC34A2 gene, which encodes a type IIb sodium-phosphate cotransporter, are responsible for this disease, leading to intra-alveolar accumulation of phosphate that favors the formation of microliths. The hallmark of this disorder is clinical-radiological dissociation, with...

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Identifiers

PMID: 23183116
DOI: 10.1016/j.rmed.2012.10.014

Genes

PAM

Provenance

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