关键词: 肺泡微石症, SLC34A2 基因

Abstract: Objective To report a case of pulmonary alveolar microlithiasis（PAM） in PUMCH and to summarize the clinical features and genetic characters. Methods The clinical features, imaging results, pathology findings and SLC34A2 gene mutation was analyzed and reported. Results The patient was a 35 years old male, presenting with cough and sputum for 10 years and worsen with short of breath for 3 weeks. Computed tomography of lung and pathology findings support the diagnose of pulmonary alveolar microlithiasis. And a heterozygous mutation c. A910T in exon 8 of SLE34A2 gene was discovered through genetic testing. Conclusion Due to the treatment is non-specific in this rare disease, it’s significantly important to recognize this disease through early non-specific clinical features but typical imaging findings. And the finding that c. A910T is more common in Asia population may provide us a potential target for screening and possible genetic engineering therapy.

Key words: pulmonary alveolar microlithiasis, SLC34A2 gene