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pulmonary alveolar microlithiasis

Etiology: unknown Epidemiology: 1) rare 2) familial 3) most patients are 30-50 years of age 4) no sex preference Genetics: - autosomal recessive & sporadic - associated with defects in SLC34A2 Pathology: 1) deposition of Ca+2 phosphate microliths throughout lungs 2) lungs are solid & sink in water 3) histopathology a) 'onion skin' bodies in alveoli b) fibrosis Clinical manifestations: 1) generally asymptomatic, diagnosis incidental 2) cases with early onset or rapid progression are rare 3) long-term, progressive course, resulting in a slow deterioration of pulmonary function 2) dyspnea in advanced stages 3) cor pulmonale may occur Radiology: - chest X-ray a) fine, sand-like mottling distributed uniformly throughout both lungs b) 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]

General

genetic disease of the lung

Database Correlations

OMIM 265100

References

  1. Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 756
  2. OMIM :accession 265100
  3. Gunther G, Einbeck C Images in Clinical Medicine Pulmonary Alveolar Microlithiasis Complicated by Tuberculosis. N Engl J Med 2021; 384:e36. March 11 PMID: 33704940 https://www.nejm.org/doi/full/10.1056/NEJMicm2028047