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Published on: June 17, 2025
[Pulmonary alveolar microlithiasis: report of four cases]
K Marc1, J E Bourkadi, A Jahid
1Service de pneumologie, hôpital Moulay-Youssef, CHU Ibn-Sina, Rabat, Maroc. kar_marc@yahoo.fr
Introduction:
Pulmonary alveolar microlithiasis is a rare disease characterised by the formation and deposition of calcium phosphate microliths in the lung. It is an autosomal recessive disorder, for which mutation in the SLC34A2 gene was recently found to be responsible for the disease.
Observations:
We report on four cases of pulmonary alveolar microlithiasis. Three patients were asymptomatic. The diagnosis was made after histological confirmation in three patients. The outcome was marked by the death of one patient.
Conclusion:
Pulmonary alveolar microlithiasis is a rare disease. Diagnosis is made with high-resolution computed tomography, which exhibits the calcic character and distribution of the lesions, thus avoiding the need to perform lung biopsy. We suggest that a literature review be performed.
Insights
Pulmonary alveolar microlithiasis, a rare genetic lung disease, involves calcium phosphate deposits. High-resolution CT scans aid diagnosis, potentially avoiding lung biopsies.
Area of Science:
- Pulmonary Medicine
- Genetics
- Radiology
Background:
- Pulmonary alveolar microlithiasis is a rare autosomal recessive disorder.
- Characterized by calcium phosphate microlithiasis in the lungs.
- Recent research links mutations in the SLC34A2 gene to the disease.
Observation:
- Presents four cases of pulmonary alveolar microlithiasis.
- Three patients were asymptomatic at diagnosis.
- Histological confirmation was obtained in three cases.
Findings:
- High-resolution computed tomography (HRCT) is effective for diagnosis.
- HRCT reveals the calcic nature and distribution of lung lesions.
- Diagnosis via HRCT can obviate the need for lung biopsy.
Implications:
- Early and accurate diagnosis of pulmonary alveolar microlithiasis is crucial.
- HRCT offers a non-invasive diagnostic approach.
- Further literature review is recommended for comprehensive understanding.
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