Case series of Pulmonary Alveolar Microlithiasis from India

Area of Science:

• Pulmonology
• Genetics
• Rare Diseases

Background:

• Pulmonary alveolar microlithiasis (PAM) is a rare, progressive lung disease characterized by diffuse calcific deposits within the alveolar spaces.
• Pathogenesis is linked to mutations in the SLC34A2 gene, affecting sodium-phosphate cotransport in alveolar type II cells.
• The disease often presents with a disconnect between clinical symptoms and radiological findings, leading to incidental diagnosis.

Observation:

• This report presents three cases of PAM diagnosed in India, spanning diverse occupations (student, cement factory worker, tailor).
• The cases illustrate the varied clinical and radiological manifestations of this rare condition.
• Diagnostic methods included radiological assessment, bronchial lavage, and histopathological examination.

Findings:

• The study highlights the wide spectrum of clinical and radiological presentations of Pulmonary alveolar microlithiasis.
• It underscores the importance of considering PAM in patients with unexplained respiratory symptoms and characteristic lung opacities.
• The report also touches upon the response to treatment in the presented cases.

Implications:

• Increased awareness of Pulmonary alveolar microlithiasis is crucial for earlier diagnosis and management.
• Further research into the genetic basis and therapeutic strategies for PAM is warranted.
• This case series contributes to the global understanding of PAM's prevalence and diverse presentations.