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Pulmonary alveolar microlithiasis is rare disease characterized by accumulation of calcium phosphate microlithis in the alveoli. The pathogenesis relates to mutation in the gene SLC34A2 (solute carrier family 34 member 2) located on chromosome 4p15.2, which produces a defective sodium-phosphate cotransporter in alveolar epithelial type-2 cells, making these cells unable to clear phosphorus released during recycling of surfactant [1]. Keywords: SLC34A2 gene, Alveolar microlithiasis, Interstitial lung disease, Bone scan scintography of the lung, Hypoxemia, Lung calcification

Pulmonary alveolar microlithiasis is a rare infiltrative pulmonary disease, in which intraalveolar accumulation of small stones (microliths) consisting of calcium phosphatite occurs. It is an autosomal recessive disorder. The disease occurs as a result of the disruption of type IIb sodium phosphate cotransporter in type II alveolar cells after the mutation of SLC34A2. Majority of patients are diagnosed between age 20 and 40. Here, we present a case of alveolar microlithiasis that was diagnosed with transbronchial biopsy.

Introduction Pulmonary Alveolar Microlithiasis (PAM) is a rare disorder that can affect patients at any age, although it is more common to present in the third and fourth decades of life. Most patients are asymptomatic at the time of diagnosis. However, some may present with symptoms of dyspnea or cough. PAM can be sporadic, or it can be hereditary. Aim To focus on the importance of using chest CT scans along with bone scintigraphy to aid in the diagnosis of PAM. The importance of screening all family members is also addressed. Case report In our case, the patient was a 21-year-old male, coming for routine check-up to be recruited in the army. He was referred to our clinic after the examining doctor noticed that his chest X-Ray was not normal. Upon revising his chest X-ray, he was found to have bilateral fine reticular infiltrates. His physical examination was unremarkable. His spirometry and DLCO were normal. A high-resolution chest CT scan was done, and showed diffuse bilateral microcalcifications with bilateral interstitial and septal thickening. To confirm the diagnosis of PAM, a Technetium-99m methylene diphosphonate (Tc-99m MDP) whole body bone scintigraphy was done, and it showed diffusely increased radiotracer uptake in both lungs. His family members were screened for PAM. His father and sister, who were completely asymptomatic and with normal pulmonary function tests, were found to have PAM as well. Conclusion The use of bone scintigraphy plays an integral role in diagnosing patients with radiological findings consistent with PAM, and it can diagnose PAM without the need for invasive procedures. Once diagnosed, screening of all family members for PAM should be done, even when they are asymptomatic, as more than one-third of the cases have a familial pattern.

Pulmonary alveolar microlithiasis is a rare diffuse lung disease characterized by widespread sand-like intra-alveolar calcifications (calcospherites composed of calcium and phosphorus). Around 800 cases have been reported in the literature to date. We report here a case of a 35 years old female with prolonged h/o of exertional dyspnoea and mild cough. Clinical examination was mostly normal. Her Chest X-Ray revealed bilateral multiple nodular opacities (sand storm appearance). CT Scan chest showed diffuse micronodular calcifications with septal thickening, compatible with alveolar microlithiasis. Pulmonary function tests showed moderately restrictive lung disease. Bronchoscopic alveolar lavage revealed calcospherites in the alveloli and bronchi confirming the diagnosis of pulmonary alveolar microlithiasis.

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.

Pulmonary alveolar microlithiasis is a rare pulmonary disorder that is caused by abnormal sodium-dependent phosphate co-transporter from the mutation of SLC34A2 gene, leading to accumulation of microliths in the alveoli. We report the extensive pulmonary alveolar microlithiasis in an elderly woman who presented with progressive dyspnea for 2 months. Chest radiograph revealed diffuse pulmonary calcification. Tissue histopathology from open lung biopsy demonstrated widespread intra-alveolar laminated calcium deposits compatible with pulmonary alveolar microlithiasis.

Pulmonary alveolar microlithiasis (PAM) is an uncommon chronic disease characterized by calcifications within the alveoli and a paucity of symptoms in contrast to the imaging findings. It occurs sporadically and it is regarded as an autossomal recessive lung disease. The pathogenesis of PAM has yet to be elucidated. The disorder has a protracted course and there is no treatment available. We report a case of 21 years-old male who presented to us with complaint of exertional breathlessness since childhood. Diagnosis of pulmonary alveolar microlithiasis was made on the basis of clinical features and laboratory findings.

Pulmonary alveolar microlithiasis (PAM) is a very rare diffuse chronic lung disease characterized by deposition of small spherules of calcium phosphate within the alveolar cavity. The disease is usually seen from birth up to 40 years of age and is usually diagnosed incidentally during radiography of the chest for other reasons. Most of patients are asymptomatic or having very mild symptoms and the majority of patients either have normal or restrictive pulmonary function test. Clinically, the course of the disease is different; it remains static in few patients or it may progress to pulmonary fibrosis, respiratory failure and cor pulmonale in others. In this case report, we present a 55-year-old man who presented with moderate shortness of breath which has progressed from mild symptoms with in the previous years. His chest high-resolution CT scan showed diffusely scattered, ill-defined little shadowy micronodules which involve the left lung; lingula and left lower lobe in particular. A lung biopsy confirmed the diagnosis of PAM. He was followed up for 1 year with treatment by steroid and alendronate, and no progression was noticed in fact improvement in pulmonary function test noticed. This is the first case report of PAM in Kurdistan.

SummaryPulmonary alveolar microlithiasis is a rare disease and only 32 cases have been reported in children under 12 years of age. The first report on Saudi children with this disorder and on affected cousins is presented, supporting the possible hypothesis of it being an autosomal recessive disorder. The importance of differentiating it from other conditions, particularly pulmonary tuberculosis, and the current approach to diagnosis and management are discussed.

Rosenthal et al. [1] recently reported a series of patients with pulmonary uptake of bone imaging tracer. All patients in that series had evidence of renal failure, and the majority had hypercalcemia as factors relating to their metastatic pulmonary calcification . We recently studied a patient with pulmonary alveolar microlithiasis without abnormal laboratory values who also demonstrated diffuse intense uptake of bone tracer in the lung.

We describe the first known use of volume-controlled bronchopulmonary lavage in a case of alveolar microlithiasis. Although the procedure has often been discussed in the literature as theoretically useful in the therapy for this disease, in our case it showed no efficacy in clearing the alveolar spherules.