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Pulmonary alveolar microlithiasis: A case report and brief review of literature
Reza Mohseni Ahangar1, Mohammad Golparvar Azizi2, Sara Babazadeh3
1Department of Internal Medicine, Babol University of Medical Sciences, Babol, Iran.
Background:
Pulmonary alveolar microlithiasis (PAM), a rare autosomal recessive pulmonary disease, is mainly characterized by extensive calcium phosphate microliths deposition in the alveoli. The major mutation, causing the characteristic of this disease, occurs in solute carrier family 34 members 2 (SLC34A2), which is placed on chromosome 4p15.2. SLC34A2 encodes sodium-phosphate cotransporter type IIb, NPT2b, which plays a critical role in the transportation of phosphate ions from pulmonary alveoli into type II pneumocytes.
Case Presentation:
Herein, we have reported a 50-year-old male presented with recent sore throat, fever, and sweating. Radiological findings revealed bilateral micronodular pattern with diffuse ground glass attenuation in lower regions. Subsequent histologic examination of lung biopsy confirmed intra-alveolar accumulation of calculi and the diagnosis of PAM. In addition, we reviewed the literature narratively to clarify different aspects of PAM.
Conclusion:
In this paper, we presented a sporadic case of PAM which was suspected with chest x-ray and confirmed by HRCT and trans-bronchial lung biopsy. We hope that it can help clinicians to be more aware of this condition and make proper diagnosis.
Insights
Pulmonary alveolar microlithiasis (PAM) is a rare lung disease caused by mutations in SLC34A2, leading to calcium phosphate buildup. This case highlights diagnostic findings and literature review for better clinician awareness.
Area of Science:
- Pulmonary Medicine
- Rare Diseases
- Genetics
Background:
- Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive lung disease.
- Characterized by extensive calcium phosphate microliths deposition in alveoli.
- Caused by mutations in the solute carrier family 34 members 2 (SLC34A2) gene, encoding sodium-phosphate cotransporter type IIb (NPT2b).
Observation:
- A 50-year-old male presented with sore throat, fever, and sweating.
- Radiological findings showed bilateral micronodular patterns and ground glass attenuation.
- Histologic examination of lung biopsy confirmed intra-alveolar calculi, diagnosing PAM.
Findings:
- The study presents a sporadic case of PAM.
- Diagnosis was suspected via chest X-ray and confirmed by HRCT and trans-bronchial lung biopsy.
- Literature review was conducted to clarify various aspects of PAM.
Implications:
- This case report aims to increase clinician awareness of Pulmonary Alveolar Microlithiasis.
- Highlights the importance of integrating imaging and biopsy for accurate diagnosis.
- Contributes to understanding the clinical presentation and diagnostic pathway of PAM.
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