Department of Radiology, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.
Respir Med. 2013 Jan;107(1):1-9. doi: 10.1016/j.rmed.2012.10.014. Epub 2012 Nov 23.
Pulmonary alveolar microlithiasis (PAM) is a rare genetic lung disease characterized by calcifications within the alveoli. Mutations in the SLC34A2 gene, which encodes a type IIb sodium-phosphate cotransporter, are responsible for this disease, leading to intra-alveolar accumulation of phosphate that favors the formation of microliths. The hallmark of this disorder is clinical-radiological dissociation, with typical imaging findings that correlate well with specific pathological findings. The long-term prognosis is poor and no treatment has been discovered to date. The aim of this review is to describe the main pathological, clinical, and imaging aspects of PAM, ranging from its genetic basis to treatment.
肺肺泡微结石症（PAM）是一种罕见的遗传性肺部疾病，其特征是肺泡内钙化。SLC34A2 基因突变导致这种疾病，该基因突变导致 IIb 型钠-磷酸盐共转运体的表达异常，导致磷酸盐在肺泡内蓄积，有利于微结石的形成。该疾病的主要特征是临床表现与影像学表现分离，典型的影像学表现与特定的病理表现密切相关。其长期预后较差，目前尚无有效的治疗方法。本文旨在从遗传基础到治疗等方面描述 PAM 的主要病理、临床和影像学特征。
