Fernández F Cristina, Salinas F Mauricio, de Grazia K José Andrés, Díaz P Juan Carlos
Rev Med Chil. 2014 May;142(5):656-61. doi: 10.4067/S0034-98872014000500016.
Pulmonary alveolar microlithiasis is an extremely rare disease characterized by intra-alveolar accumulation of calcified spherical particles (called microliths), due to a mutation of the gene encoding a membrane transport protein of the alveolar surface. Most patients are asymptomatic at diagnosis. The course of the disease is slowly progressive, with development of pulmonary fibrosis and respiratory failure. The "sandstorm" pattern is the characteristic finding of this disease. We report a 39-year-old female presenting with progressive dyspnea. A chest X ray showed ground-glass opacities and a high resolution CT scan showed numerous calcified lung micronodules. A surgical lung biopsy confirmed the diagnosis of pulmonary alveolar microlithiasis.
肺泡微石症是一种极其罕见的疾病,其特征是由于肺泡表面膜转运蛋白编码基因的突变,导致肺泡内出现钙化的球形颗粒(称为微石)堆积。大多数患者在诊断时无症状。疾病进程缓慢进展,会出现肺纤维化和呼吸衰竭。“沙尘暴”模式是该疾病的特征性表现。我们报告一例39岁女性,表现为进行性呼吸困难。胸部X线显示磨玻璃影,高分辨率CT扫描显示肺部有大量钙化微小结节。手术肺活检确诊为肺泡微石症。