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作 者:李学祺 吴志嵩 张亚平 陈杰[1] 马南兰[1] Li Xueqi;Wu Zhisong;Zhang Yaping;Chen Jie;Ma Nanlan(Department of Tuberculosis,Nanjing Hospital Affiliated to Nanjing University of Traditional Chinese Medicine(The Second Hospital of Nanjing),Nanjing 210000,China)
机构地区:[1]南京中医药大学附属南京医院(南京市第二医院)结核科,南京210000
出 处:《国际呼吸杂志》2023年第6期704-707,共4页International Journal of Respiration
基 金:2020年度南京市卫生科技发展专项资金项目(YKK20101)。
摘 要:肺泡微石症是一种罕见的常染色体隐性遗传病,可能与SLC34A2基因突变有关。该疾病缺乏典型的、特异性的临床症状,诊断依赖于影像学检查,但影像学上容易与粟粒性肺结核、结节病、尘肺等疾病混淆,合并肺结核的病例更为罕见。近年来随着相关研究的进展,对该疾病的发病机制、分子遗传学特征、临床特征及治疗方法都有了更多的认识。本文分析1例肺泡微石症合并肺结核的诊断和治疗过程,并对该疾病相关文献进行复习,以提高对该疾病的认识。Pulmonary alveolar microlithiasis(PAM),a rare autosomal recessive genetic disease,may be related to the SLC34A2 gene mutation.This disease lacks specific symptoms and the diagnosis depends on imaging examination.It is easily confused with miliary tuberculosis,sarcoidosis,and pneumoconiosis in imaging.PAM with pulmonary tuberculosis is even rarer.With the progress of the related research,we now have a deeper understanding of the pathogenesis,molecular genetic features,clinical characteristics,and therapeutic method of this disease.This paper is to summarize the diagnosis and treatment of pulmonary alveolar microlithiasis with pulmonary tuberculosis,so as to improve the understanding of this disease.
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