Losing vigilance in diagnosing pulmonary alveolar microlithiasis: A report on four cases

Abstract

Pulmonary alveolar microlithiasis (PAM) is a rare chronic lung disease characterized by calcium and phosphate deposition in the alveolar lumen throughout the parenchyma of both lungs, with predominance in the middle and lower lung fields. It is caused by mutations in the recessive gene, SLC34A2, on the autosomal chromosome. In this article, we characterize four cases of PAM and analyze the loss of diagnostic vigilance in two of them. Patients came to medical facilities with clinical manifestations such as cough, shortness of breath, chest pain, and fatigue. The initial diagnosis was unclear in two cases because the X-ray film’s quality was not good enough and the medical staff had little experience in clinical and chest X-ray interpretations for PAM. The definitive diagnosis was based on a combination of high-resolution computed tomography (CT) and bronchoalveolar lavage fluid testing. In addition, chest X-ray and high-resolution CT enable the assessment of the stage, progression, and severity of the disease. There is currently no specific treatment for PAM other than lung transplantation.