Pulmonary Alveolar Microlithiasis: A Disorder of Pulmonary Phosphate Homeostasis.

Christine Y Zhou, Jean M Elwing, Elisabeth Bendstrup, Francis X McCormack

Journal: Clinics in chest medicine 2025;46(4):649-665

PMID: 41110927

Full Text on Elsevier Science View on PubMed

Abstract

Pulmonary alveolar microlithiasis is an ultrarare autosomal recessive lung disease caused by loss of a key pulmonary epithelial sodium phosphate cotransporter resulting in elevation of luminal phosphate and accumulation of calcium phosphate crystals in alveolar spaces. The disease is often discovered incidentally on routine chest films in asymptomatic individuals or through screening of families with a known history of pulmonary alveolar microlithiasis (PAM) and tends to progress slowly, often culminating in respiratory failure in late middle age. Current management is limited to supportive measures, with lung transplantation in end stage disease. Recent advances in the pathogenesis of PAM have suggested therapeutic approaches.

Address: Division of Pulmonary, Critical Care, and Sleep Medicine, Department of Internal Medicine, University of Cincinnati School of Medicine, Cincinnati, OH, USA.; Department of Respiratory Diseases and Allergy and Department of Clinical Medicine, Centre for Rare Lung Diseases, Aarhus University, Palle Juul-Jensens Boulevard 99, Aarhus N 8200, Denmark.; Division of Pulmonary, Critical Care, and Sleep Medicine, Department of Internal Medicine, University of Cincinnati School of Medicine, Cincinnati, OH, USA. Electronic address: [email protected].

DOI: 10.1016/j.ccm.2025.07.006

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MeSH Terms: Humans, Lung Diseases, Calcinosis, Genetic Diseases, Inborn, Phosphates, Homeostasis, Pulmonary Alveoli