Pulmonary alveolar microlithiasis
Patients may present with dyspnea and cough, although in the majority of patients, diagnosis is made by radiography incidentally. At diagnosis, the majority of patients are asymptomatic, and individuals may not present with symptoms until 30-40 years of age. As the disease progresses, pulmonary function tests will show a restrictive lung disease, and patients may develop pulmonary hypertension, although the rate of progression is variable.
Pulmonary alveolar microlithiasis is caused by a mutation in the SLC34A2 gene, which helps regulate phosphate levels and production of protein in alveolar type II cells. The majority of cases have been reported in the United States, Europe, and Asia.
There are no specific treatments for pulmonary alveolar microlithiasis.
For more information, see OMIM.
J84.02 – Pulmonary alveolar microlithiasis
87153008 – Pulmonary alveolar microlithiasis
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