A case report of pulmonary alveolar microlithiasis with pulmonary tuberculosis
Malay Sarkar1, Sudarshan K Sharma2, Anupam Jhobta3
1Department of Pulmonary Medicine, Indira Gandhi Medical College, Shimla, Himachal Pradesh, India.
Abstract:
Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease characterised by the deposition of calcium phosphate microliths in the alveoli. PAM has been reported in all continents and there is often a familial history. There is clinical-radiological dissociation as there is often a paucity of symptoms in contrast to the imaging findings. Patients often remain asymptomatic until the third or fourth decade of life, and dyspnea is the most common symptom. PAM is caused by a mutation within the solute carrier family 34 member 2 gene (the SLC34A2 gene) located on chromosome 4p15.2, which encodes a sodium/phosphate co-transporter. The imaging appearance of the disease is quite pathognomic with the high-resolution computed tomography (HRCT) demonstrating a diffuse micronodular appearance. Transbronchial lung biopsy also confirms the diagnosis. There is no effective therapy at present except lung transplantation. We herein, present a case of PAM along with clinical history, imaging study, histopathological study and genetic study of a 43-year-old female adult patient along with genetic analysis.
Insights
Pulmonary alveolar microlithiasis (PAM) is a rare genetic lung disease. This case study details a 43-year-old female patient, highlighting clinical, imaging, and genetic findings.
Area of Science:
- Pulmonology
- Genetics
- Radiology
Background:
- Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disorder.
- Characterized by calcium phosphate microlith deposition in lung alveoli.
- Often presents with clinical-radiological dissociation and delayed symptoms.
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