Division of Pulmonary, Critical Care, and Sleep Medicine, University of Cincinnati, Cincinnati, OH, USA.
Division of Radiology, University of Wisconsin, Madison, WI, USA.
Eur Respir Rev. 2020 Nov 27;29(158). doi: 10.1183/16000617.0024-2020. Print 2020 Dec 31.
Pulmonary alveolar microlithiasis (PAM) is a fascinating rare lung disease that is associated with the accumulation of hydroxyapatite microliths within the lumen of the alveolar spaces. In most patients, PAM is discovered incidentally on radiographs performed for other purposes, and the typical disease course is characterised by slowly progressive respiratory insufficiency over decades. Recent genetic analyses that have revealed that the deficiency of the sodium-phosphate cotransporter NPT2B is the cause of PAM have enabled the development of powerful animal models that inform our approach to disease management and treatment. Here we review the epidemiology and molecular pathophysiology of PAM, as well as the diagnostic approach, clinical manifestations, radiographic and pathologic features, and clinical management of the disease. Although there are no proven treatments for PAM, progress in our understanding of disease pathogenesis is providing insights that suggest strategies for trials.
肺肺泡微结石症（PAM）是一种引人入胜的罕见肺部疾病，其特征是肺泡腔内羟磷灰石微石的积累。在大多数患者中，PAM 是在因其他目的进行的放射检查中偶然发现的，典型的疾病过程是数十年内逐渐进展的呼吸功能不全。最近的遗传分析表明，钠-磷共转运蛋白 NPT2B 的缺乏是 PAM 的病因，这使得能够开发出强大的动物模型，为疾病管理和治疗提供了信息。在这里，我们回顾了 PAM 的流行病学和分子病理生理学，以及疾病的诊断方法、临床表现、影像学和病理学特征以及临床管理。虽然目前尚无针对 PAM 的有效治疗方法，但我们对疾病发病机制的认识的进展正在提供有关试验策略的见解。
