Familial alveolar stone disease: report of 2 cases and review of the literature

Objective To explore the pathogeny, epidemiology, and clinical characteristics of pulmonary alveolar microlithiasis (PAM), with the aim of contributing to a better understanding of this uncommon disease. Methods Case reports and literature review were performed on 2 cases of familial alveolar micro-lithiasis. Results PAM was a disease with familial aggregation and a pattern of autosomal ecessive inheritance.It always had mild clinical symptoms, but the imaging manifestations was obvious, which diffused micronodules in two lungs, suggesting the discrepancy between symptoms and imaging manifestation.There was no effective treatment for PAM, the main treatment present was palliative treatments, and lung transplantation could be performed in end-stage of PAM. Conclusions PAM is a respiratory disease, clinical symptoms and imaging performance is not commensurate.Easily be misdiagnosed as tuberculosis.Pathological examination is advised to further confirm the diagnosis. Key words: Pulmonary alveolar microlithiasis; SLC34A2 gene; Pathological; Radiologica