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 cotransporter, 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.KEYWORDS: Alveolar microlithiasis, genetic polymorphisms, type IIb sodium-dependent phosphate co-transporter P ulmonary alveolar microlithiasis (PAM) is a rare diffuse lung disease. It was first named in 1933 by PUHR [1], and is characterised by deposition of spherical calcium phosphate concretions (microliths) in the alveoli [2][3][4]. Although the aetiology remains unclear, PAM is thought to be an autosomal recessive disease caused by mutations of the solute carrier family 34 (sodium phosphate), member 2 gene (the SLC34A2 gene), which encodes a sodium phosphate cotransporter [5].Herein, we present two cases of PAM with different mutations in the SLC34A2 gene that have not been previously described and, in addition, we review the literature.
CASE ONEA 49-yr old male from Denmark was referred to the Dept of Respiratory Medicine, Aarhus University Hospital (Aarhus, Denmark) for diagnostic investigation in April 2005. The patient was adopted, and therefore the family history was unknown. He was complaining of fatigue and progressively worsening dyspnoea over the last 4 yrs. He had no cough or sputum. He was a heavy smoker (30 pack-yrs).Upon first admission, the ECG showed signs of serious ischaemia and he was transferred to the