Alveolar microlithiasis

Alveolar Microlithiasis is a rare pulmonary disease characterized by the presence of small calculi (microliths) in the alveoli of the lungs. The disease is often inherited in an autosomal recessive manner, and is caused by mutations in the SLC34A2 gene.

Etiology

The primary cause of Alveolar Microlithiasis is mutations in the SLC34A2 gene. This gene provides instructions for making a protein that is involved in the transport of phosphate across cell membranes. Mutations in the SLC34A2 gene disrupt the normal transport of phosphate, leading to the accumulation of calcium phosphate microliths in the alveoli.

Symptoms

The symptoms of Alveolar Microlithiasis can vary greatly from person to person. Some individuals may remain asymptomatic for many years, while others may experience symptoms such as dyspnea (shortness of breath), cough, chest pain, and fatigue. In severe cases, the disease can lead to respiratory failure.

Diagnosis

Diagnosis of Alveolar Microlithiasis is often made through a combination of medical history, physical examination, and imaging studies such as chest radiography and computed tomography (CT) scan. The characteristic finding on imaging is the presence of diffuse, sand-like opacities in the lungs.

Treatment

There is currently no cure for Alveolar Microlithiasis, and treatment is primarily supportive. This may include oxygen therapy for individuals with respiratory distress, and pulmonary rehabilitation to improve lung function and quality of life. In severe cases, lung transplantation may be considered.

Prognosis

The prognosis for individuals with Alveolar Microlithiasis is variable, and depends on the severity of the disease and the individual's overall health. Some individuals may live for many years with minimal symptoms, while others may experience progressive respiratory failure.

See also

• Pulmonary alveolus
• Pulmonary disease
• SLC34A2

NIH genetic and rare disease info

• NIH info on Alveolar microlithiasis

Alveolar microlithiasis is a rare disease.

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