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

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 cas...

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Bibliographic Details
Published in:BMJ Case Reports 2014, Vol.2014
Main Authors: Al-Sardar, Hussain, Al-Habbo, Dhaher J S, Al-Hayali, Rami M A
Format: Report
Language:English
Online Access:Get full text
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Summary: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.
ISSN:1757-790X
DOI:10.1136/bcr-2013-201300