基础医学与临床2017，Vol.37Issue(1)：103-106,4.
肺泡微石症1例
A case report of pulmonary alveolar microlithiasis
摘要
Abstract
Objective To report a case of pulmonary alveolar microlithiasis ( PAM) in Peking Union Medical Col-lege Hospital and to summarize the clinical features and genetic characters .Methods The clinical features , ima-ging results , pathology findings and SLC34 A2 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 .A910 T in exon 8 of SLE34 A2 gene was discovered through genetic testing .Conclusions Since 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 .A910 T is more common in Asia population may provide us a potential target for screening and possible genetic engineering therapy .关键词
肺泡微石症/SLC34A2基因Key words
pulmonary alveolar microlithiasis/SLC34A2 gene分类
医药卫生引用本文复制引用
杨莹韵,梁帅,朱文佳,孟云霄,罗金梅..肺泡微石症1例[J].基础医学与临床,2017,37(1):103-106,4.基金项目
国家自然科学基金 （）
