pulmonary alveolar microlithiasis
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Etiology
unknown
Epidemiology
- rare
- familial
- most patients are 30-50 years of age
- no sex preference
Pathology
- deposition of Ca+2 phosphate microliths throughout lungs
- lungs are solid & sink in water
- histopathology
Genetics
- autosomal recessive & sporadic
- associated with defects in SLC34A2
Clinical manifestations
- generally asymptomatic, diagnosis incidental
- cases with early onset or rapid progression are rare
- long-term, progressive course, resulting in a slow deterioration of pulmonary function
- dyspnea in advanced stages
- cor pulmonale may occur
Radiology
- chest X-ray
- fine, sand-like mottling distributed uniformly throughout both lungs
- extensive intra-alveolar deposition of calcium bodies (calcispherites)
- lung CT
- calcified micronodules, ground-glass opacities, +/- cavitation[3]
Management
- lung transplantation is the only established treatment[3]
More general terms
References
- ↑ Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 756
- ↑ OMIM https://mirror.omim.org/entry/265100
- ↑ 3.0 3.1 3.2 Gunther G, Einbeck C Images in Clinical Medicine Pulmonary Alveolar Microlithiasis Complicated by Tuberculosis. N Engl J Med 2021; 384:e36. March 11 PMID: https://www.ncbi.nlm.nih.gov/pubmed/33704940 https://www.nejm.org/doi/full/10.1056/NEJMicm2028047