Sarkar Malay, Sharma Sudarshan K, Jhobta Anupam, Gulati Anchana
Department of Pulmonary Medicine, Indira Gandhi Medical College, Shimla, Himachal Pradesh, India.
Department of Pathology, Indira Gandhi Medical College, Shimla, Himachal Pradesh, India.
Lung India. 2023 Mar-Apr;40(2):161-164. doi: 10.4103/lungindia.lungindia_276_22.
Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease characterised by the deposition of calcium phosphate microliths in the alveoli. PAM has been reported in all continents and there is often a familial history. There is clinical-radiological dissociation as there is often a paucity of symptoms in contrast to the imaging findings. Patients often remain asymptomatic until the third or fourth decade of life, and dyspnea is the most common symptom. PAM is caused by a mutation within the solute carrier family 34 member 2 gene (the SLC34A2 gene) located on chromosome 4p15.2, which encodes a sodium/phosphate co-transporter. The imaging appearance of the disease is quite pathognomic with the high-resolution computed tomography (HRCT) demonstrating a diffuse micronodular appearance. Transbronchial lung biopsy also confirms the diagnosis. There is no effective therapy at present except lung transplantation. We herein, present a case of PAM along with clinical history, imaging study, histopathological study and genetic study of a 43-year-old female adult patient along with genetic analysis.
肺泡微石症(PAM)是一种罕见的常染色体隐性疾病,其特征是磷酸钙微结石沉积于肺泡。各大洲均有PAM的报道,且该病常有家族病史。存在临床-影像学分离现象,即与影像学表现相比,症状往往较少。患者通常在生命的第三个或第四个十年之前无症状,而呼吸困难是最常见的症状。PAM由位于4号染色体p15.2上的溶质载体家族34成员2基因(SLC34A2基因)发生突变所致,该基因编码一种钠/磷酸盐共转运蛋白。该病的影像学表现具有相当的特征性,高分辨率计算机断层扫描(HRCT)显示为弥漫性微结节外观。经支气管肺活检也可确诊。目前除肺移植外尚无有效治疗方法。在此,我们报告一例43岁成年女性PAM患者的病例,包括临床病史、影像学研究、组织病理学研究和遗传学研究以及基因分析。