Chopra Manu, Tendolkar Manjit Sharad, Vardhan Vasu
Department of Pulmonary Medicine, Army Hospital - Research and Referral, New Delhi, Delhi, India.
Department of Pulmonary Medicine, Indian Naval Hospital Ship Asvini, Mumbai, Maharashtra, India.
BMJ Case Rep. 2019 Mar 22;12(3):e227406. doi: 10.1136/bcr-2018-227406.
Pulmonary alveolar microlithiasis (PAM) is a rare disease characterised by calcific deposits in lung parenchyma. PAM being a progressive disease with dissociation between severity of clinical symptoms and radiological picture, it is often detected incidentally. Mutations in the SLC34A2 gene encoding the type IIb sodium phosphate cotransporter in alveolar type II cells are considered to be involved in the pathogenesis of PAM. The majority of the patients are diagnosed usually between the ages of 20 and 40 years, although paediatric PAM has also been reported. Diagnosis is confirmed by combination of radiological features, bronchial lavage and histopathological testing. At present, lung transplant is the only definitive treatment available. Though rare, the prevalence of PAM is worldwide. Till June 2018, 86 cases have been reported from India and 1042 cases have been reported worldwide. We report three cases from India, including a student, cement factory worker and a tailor, which will highlight the varied clinical and radiological presentations of this rare disease along with the response to treatment.
肺泡微石症(PAM)是一种罕见疾病,其特征为肺实质内出现钙化沉积。PAM是一种进行性疾病,临床症状严重程度与影像学表现不一致,常为偶然发现。编码II型肺泡上皮细胞IIb型磷酸钠共转运体的SLC34A2基因突变被认为与PAM的发病机制有关。大多数患者通常在20至40岁之间被诊断出来,不过也有小儿PAM的报道。通过影像学特征、支气管灌洗和组织病理学检查相结合来确诊。目前,肺移植是唯一可用的确定性治疗方法。尽管PAM罕见,但在全球范围内均有发病。截至2018年6月,印度已报告86例,全球已报告1042例。我们报告了来自印度的三例病例,包括一名学生、一名水泥厂工人和一名裁缝,这将突出这种罕见疾病多样的临床和影像学表现以及对治疗的反应。