家族性肺泡微石症2例并文献复习  

Familial alveolar stone disease：report of 2 cases and review of the literature

作　　者：邵有和[1] 何志义[2] 陈昌枝[1] 冯洁美[1] Shao Youhe He Zhiyi Chen Changzhi Feng Jiemei(Department of Respiratory Medicine, Guigang City＇s Hospital, Guigang 537100, China)

机构地区：[1]贵港市人民医院呼吸内科,537100 [2]广西医科大学第一附属医院呼吸内科,南宁530021

出　　处：《国际呼吸杂志》2017年第20期1565-1570,共6页International Journal of Respiration

摘　　要：目的探讨肺泡微石症（pulmonaryalveolarmicrolithiasis，PAM）的病因、流行病学及临床特点，以提高对该病的临床认识。方法对2例家族型肺泡微石症患者进行病例报道和文献复习。结果PAM是一种具有家族聚集倾向的常染色体隐性遗传疾病，临床症状轻微，影像学改变较明显，表现为两肺弥漫性小结节影，以中下肺为主，病理表现为肺泡腔内不规则同心分布的钙盐沉着，无有效治疗手段，主要是以对症治疗为主，终末期可进行肺移植。结论PAM是一种临床症状与影像学表现不相称的呼吸系统疾病，容易被误诊为肺结核，诊断不明时，可行病理检查进一步确定诊断。Objective To explore the pathogeny, epidemiology, and clinical characteristics of pulmonary alveolar microlithiasis （PAM）, with the aim of contributing to a better understanding of this uncommon disease. Methods Case reports and literature review were performed on 2 cases of familial alveolar micro-lithiasis. Results PAM was a disease with familial aggregation and a pattern of autosomal ecessive inheritance. It always had mild clinical symptoms, but the imaging manifestations was obvious, which diffused micronodules in two lungs, suggesting the discrepancy between symptoms and imaging manifestation. There was no effective treatment for PAM, the main treatment present was palliative treatments,and lung transplantation could be performed in end-stage of PAM. Conclusions PAM is a respiratory disease, clinical symptoms and imaging performance is not commensurate. Easily be misdiagnosed as tuberculosis. Pathological examination is advised to further confirm the diagnosis.

关 键 词：肺泡微石症SLC34A2基因 病理 影像学 

分 类 号：R563[医药卫生—呼吸系统]