Pulmonary alveolar microlithiasis: report of two brothers with the same illness and review of literature

肺泡微石症:两兄弟患有相同疾病的报告及文献综述

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Abstract

Pulmonary alveolar microlithiasis (PAM) is a rare lung disease characterised by extensive deposition of calpospherites within the alveoli. The disease is caused by mutations in the gene SLC34A2 encoding sodium-dependent phosphate co-transporter. It is an autosomal recessive disease with sporadic cases worldwide. Most patients are asymptomatic at the time of diagnosis. It may progress slowly over years to respiratory failure and cor pulmonale.

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