Pakistan Journal of Medicine and Dentistry (Apr 2019)
SUCCESSFUL DIAGNOSIS OF PULMONARY ALVEOLAR MICROLITHIASIS BY A NEW MODALITY
Abstract
Pulmonary alveolar microlithiasis is a rare disease with an almost unheard of pathogenesis. With very few cases to document worldwide, predominantly being discovered in Turkey, Italy, and America, it has been nearly impossible to determine a concrete etiology. However, one standout biochemical finding most cases of PAM have in common is a mutation in the SLC34A2 gene coding for the sodium-phosphate cotransporter found in Type II alveolar cells. This cotransporter is responsible for maintaining equilibrium of phosphorus which is a vital component of surfactant. Diagnostic exploration is achieved via radiological imaging, bronchoalveolar lavage and above all, transbronchial lung biopsy. However, in this particular case, due to the patient’s hypoxic condition, Technetium 99m diphosphonate scanning was employed in place of the biopsy. A non-invasive procedure, technetium 99m can detect extensive pulmonary uptake, hereby diagnosing the patient and protect against the physical damage and accompanying side effects inflicted upon the patient by various invasive procedures. In future, to avoid wastage of resources, the use of technetium 99m diphosphonate scanning should be more prevalent in the diagnosis process of PAM.