Menon Preethi Dileep, Hackman Sarah
Department of Pathology and Laboratory Medicine, University of Texas Health, 7703 Floyd Curl Drive, MC#7750, San Antonio, Texas 78229, USA.
Case Rep Pathol. 2020 Mar 27;2020:6247920. doi: 10.1155/2020/6247920. eCollection 2020.
Pulmonary alveolar microlithiasis (PAM) is an uncommon hereditary lung disease characterized by widespread deposition of calcium phosphate microliths within the alveolar spaces. It is considered an autosomal recessive disease with a mutation in a gene encoding a sodium phosphate cotransporter. The imaging findings in the early phase of disease can be mistaken for miliary tuberculosis or sarcoidosis. However, the classic radiologic findings in the later phases of disease show numerous opacities causing a "snowstorm" appearance to the lungs that corresponds with widespread deposition of microliths throughout the lung parenchyma. Although the disease often progresses over a slow time course, there are no effective therapies, and bilateral lung transplantation is recommended when there are increasing oxygen requirements or evidence of pulmonary hypertension.
肺泡微石症(PAM)是一种罕见的遗传性肺部疾病,其特征是磷酸钙微结石广泛沉积于肺泡腔内。它被认为是一种常染色体隐性疾病,由编码磷酸钠共转运蛋白的基因突变引起。疾病早期的影像学表现可能会被误诊为粟粒性肺结核或结节病。然而,疾病后期的典型影像学表现为肺部出现大量混浊影,呈现“暴风雪”样外观,这与微结石在整个肺实质内的广泛沉积相对应。尽管该病通常进展缓慢,但目前尚无有效治疗方法,当氧需求增加或有肺动脉高压证据时,建议进行双侧肺移植。