Abstract
Objective To investigate the occurrence, development and prognosis of pulmonary alveolar microlithiasis (PAM), and improve the understanding of PAM. Methods A case of pulmonary alveolar microlithiasis with pneumothorax was reported in Department of Thoracic Surgery, Suzhou Hospital affiliated to Nanjing Medical University, and the related literatures were reviewed. Results PAM was a rare and autosomal recessive disease with familial aggregation.SLC34A2 gene mutation was the cause of PAM.There was no obvious symptom in the early stage of the disease.The high resolution computed tomography played an important role in the diagnosis of PAM because it was characteristic. Conclusions PAM is a respiratory disease of which clinical symptoms and imaging performance are not commensurate.There has been no effective treatment for PAM yet.Lung transplantation is an effective treatment in end-stage of PAM. Key words: Pulmonary alveolar microlithiasis; Gene mutation; High resolution computed tomography; Lung transplantation
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