摘要
目的探讨肺泡微石症(PAM)的发生、发展及预后等特点,以提高对本病的认识。方法对南京医科大学附属苏州医院胸外科1例PAM并发左侧气胸病例进行报道并对国内外相关文献复习。结果PAM是一种罕见的家族聚集性常染色体隐性遗传病,其发病原因与SLC34A2基因突变有关,早期症状不明显,高分辨率CT表现具有特征性,对诊断有重要作用。结论PAM是一种影像学表现和临床症状不相称的呼吸系统疾病,目前尚无有效的药物治疗,肺移植是PAM终末期的有效治疗手段。
Objective To investigate the occurrence, development and prognosis of pulmonary alveolar microlithiasis ( PAM), and improve the understanding of PAM. Methods A case of pulmonary alveolar microlithiasis with pneumothorax was reported in Department of Thoracic Surgery, Suzhou Hospital affiliated to Nanjing Medical University, and the related literatures were reviewed. Results PAM was a rare and autosomal recessive disease with familial aggregation. SLC34A2 gene mutation was the cause of PAM. There was no obvious symptom in the early stage of the disease. The high resolution computed tomography played an important role in the diagnosis of PAM because it was characteristic. Conclusions PAM is a respiratory disease of which clinical symptoms and imaging performance are not commensurate. There has been no effective treatment for PAM yet. Lung transplantation is an effective treatment in end-stage of PAM.
作者
谢宏亚
杨勇
刘晓强
崔建勇
朱一蒙
朱栋麟
袁光达
魏腾腾
Xie Hongya;Yang Yong;Liu Xiaoqiang;Lui Jianyong;Zhu Yimeng;Zhu Donglin;Yuan Guangda;Wei Tengteng(Department of Thoracic Surgery, Suzhou Hospital affiliated to Nanjing Medical University, Suzhou 215001, China)
出处
《国际呼吸杂志》
2019年第8期589-593,共5页
International Journal of Respiration
关键词
肺泡微石症
基因突变
高分辨率CT
肺移植
Pulmonary alveolar microlithiasis
Gene mutation
High resolution computed tomography: Lung transplantation
