Stamatopoulos Alexandros, Patrini Davide, Mitsos Sofoklis, Khiroya Reena, Borg Elaine, Hayward Martin, Lawrence David, Panagiotopoulos Nikolaos
Department of Thoracic Surgery, University College London Hospitals (UCLH), London UK.
Department of Pathology, University College London Hospitals (UCLH), London, UK.
Respir Med Case Rep. 2017 May 31;22:24-27. doi: 10.1016/j.rmcr.2017.05.009. eCollection 2017.
Pulmonary alveolar microlithiasis (PAM) is an uncommon genetic disorder associated with alveolar cell injury. This injury is caused in most cases by inactivating mutations in SLC34A2 gene, which is responsible for the production of a sodium-dependent phosphate co-transporter. The dysfunction or deficiency of this transporter leads to the aggregation of local phosphate intra-alveolarly and formation of microliths. Most of the patients are asymptomatic at the time of the diagnosis but as the disease progress it leads to fatal respiratory or cardiac failure. We describe a case of a 63-year-old man referred to our department for a surgical lung biopsy. He has been symptomatic for one year with progressive shortness of breath and deteriorating exercise tolerance. The imaging was suggestive of extensive interstitial bilateral lung disease. Histological findings after the lung biopsy by video-assisted thoracic surgery (VATS) established the diagnosis of pulmonary alveolar microlithiasis. His sister suffered from the same disease and passed away at the age of 54. It is remarkably rare for PAM to have such a late onset with a previous normal X-ray and only a few cases have been reported worldwide.
肺泡微石症（PAM）是一种与肺泡细胞损伤相关的罕见遗传性疾病。这种损伤在大多数情况下是由SLC34A2基因的失活突变引起的，该基因负责产生一种钠依赖性磷酸盐共转运蛋白。这种转运蛋白的功能障碍或缺乏会导致肺泡内局部磷酸盐聚集并形成微石。大多数患者在诊断时无症状，但随着疾病进展会导致致命的呼吸或心力衰竭。我们描述了一例63岁男性患者，因手术肺活检转诊至我科。他有症状已一年，表现为进行性气短和运动耐量下降。影像学检查提示双侧肺部广泛间质病变。通过电视辅助胸腔镜手术（VATS）进行肺活检后的组织学检查确诊为肺泡微石症。他的姐姐患有同样的疾病，54岁时去世。PAM发病如此之晚且之前X线检查正常极为罕见，全球仅报道了少数病例。
