title: Pulmonary alveolar microlithiasis: two case reports and review of the literature.
abstract: Pulmonary alveolar microlithiasis is a rare diffuse lung disease characterised by deposition of calcium phosphate within the alveolar airspaces. The disease is usually discovered from birth up to 40 yrs of age and is often diagnosed incidentally during radiography of the chest for other reasons. Many patients are asymptomatic and the majority of patients either have normal or restrictive pulmonary function. The clinical course of the disease varies. While it remains static in some patients, it progresses into pulmonary fibrosis, respiratory failure and cor pulmonale in others. With the exception of lung transplantation, there is no known effective treatment for the disease. Although the aetiology remains unclear, mutations of the solute carrier family 34 (sodium phosphate), member 2 gene (the SLC34A2 gene), which encodes a sodium/phosphate co-transporter, are considered to be the cause of the disease. We present two cases of pulmonary alveolar microlithiasis with different mutations in the SLC34A2 gene that have not been previously described, and a review of the literature.
authors.affiliation: Dept of Respiratory Medicine and Allergology, Aarhus University Hospital, Aarhus, Denmark.
authors.forename: Åsa Lina M
authors.initials: ÅL
authors.lastname: Jönsson
authors.forename: Ulf
authors.initials: U
authors.lastname: Simonsen
authors.forename: Ole
authors.initials: O
authors.lastname: Hilberg
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Bendstrup
mesh_terms: D000293:Adolescent; D002114:Calcinosis / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D004252:DNA Mutational Analysis; D030342:Genetic Diseases, Inborn / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D020022:Genetic Predisposition to Disease; D006801:Humans; D008168:Lung / Q000000981:diagnostic imaging / Q000503:physiopathology; D008171:Lung Diseases / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D011379:Prognosis; D050614:Sodium-Phosphate Cotransporter Proteins, Type IIb / Q000235:genetics*; D014057:Tomography, X-Ray Computed
chemical_list: C493557:SLC34A2 protein, human; D050614:Sodium-Phosphate Cotransporter Proteins, Type IIb