ObjectiveTo improve the understanding of pulmonary alveolar microlithiasis (PAM).MethodsA male patient and his brother were considered PAM by chest image and further examined by gene sequencing. The patient was confirmed through percutaneous lung biopsy. The clinical data of 172 patients from 108 pieces of literature were collected and reviewed from PubMed. The clinical presentation, radiological character, pathological finding, diagnosis and differential diagnosis, treatment and prognosis of the disease were analyzed and summarized.ResultsThe results of gene sequencing revealed the homozygous mutation of c.910A>T in exon 8 of SLC34A2 gene. The genetic mutation encoding the sodium phosphate co-transporter Npt2b (SLC34A2) was considered as the major pathogenesis. Mutations appeared to cluster in exon 8, c.910A>T was the most common mutation observed in Chinese cases. The most obvious symptoms were dyspnea, followed by cough, chest pain, fever, fatigue, and hemoptysis. The clinical signs consisted of cyanosis, clubbed fingers, moist rales and velcro crackles in the lungs. The typical presentation of PAM on a chest X ray was a ‘sandstorm’ appearance. The most frequent high-resolution CT findings of PAM were diffuse ground-glass attenuation and subpleural linear calcifications. Lung biopsy showed lamellar microliths deposited in alveolar spaces and the pleura. Etidronate had an imprecise role in the treatment of PAM. Lung transplantation was the ultimate effective treatment option.ConclusionsPAM is a rare autosomal recessive inherited lung disease. The characteristics of the disease should be fully understood in order to achieve early diagnosis and early intervention. Lung transplantation is recommended for patients of end stage.