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

Hussain Al-Sardar, Dhaher J S Al-Habbo, Rami M A Al-Hayali

Journal: BMJ case reports 2015;2014():bcr2013201300

PMID: 24686795

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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.

Address: Department of Medicine, Southend University Hospital, Southend-on-Sea, UK.

DOI: 10.1136/bcr-2013-201300

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MeSH Terms: Calcinosis, Genetic Diseases, Inborn, Humans, Lung Diseases, Male, Middle Aged, Radiography, Siblings, Sodium-Phosphate Cotransporter Proteins, Type IIb