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Pulmonary alveolar microlithiasis
Patrick Kosciuk1, Cristopher Meyer2, Kathryn A Wikenheiser-Brokamp3,4
1Division of Pulmonary, Critical Care, and Sleep Medicine, University of Cincinnati, Cincinnati, OH, USA.
Abstract:
Pulmonary alveolar microlithiasis (PAM) is a fascinating rare lung disease that is associated with the accumulation of hydroxyapatite microliths within the lumen of the alveolar spaces. In most patients, PAM is discovered incidentally on radiographs performed for other purposes, and the typical disease course is characterised by slowly progressive respiratory insufficiency over decades. Recent genetic analyses that have revealed that the deficiency of the sodium-phosphate cotransporter NPT2B is the cause of PAM have enabled the development of powerful animal models that inform our approach to disease management and treatment. Here we review the epidemiology and molecular pathophysiology of PAM, as well as the diagnostic approach, clinical manifestations, radiographic and pathologic features, and clinical management of the disease. Although there are no proven treatments for PAM, progress in our understanding of disease pathogenesis is providing insights that suggest strategies for trials.
Insights
Pulmonary alveolar microlithiasis (PAM) is a rare lung disease caused by NPT2B deficiency, leading to hydroxyapatite buildup. Understanding its molecular basis and genetics offers new avenues for treatment strategies.
Area of Science:
- Pulmonary Medicine
- Rare Diseases
- Genetics
Background:
- Pulmonary alveolar microlithiasis (PAM) is a rare lung disease characterized by hydroxyapatite microlith accumulation in alveoli.
- It often presents incidentally and progresses slowly to respiratory insufficiency over decades.
- Recent genetic findings link PAM to a deficiency in the sodium-phosphate cotransporter NPT2B.
Purpose of the Study:
- To review the epidemiology, molecular pathophysiology, and diagnostic approaches to PAM.
- To discuss clinical manifestations, radiographic and pathologic features, and current management strategies.
- To explore emerging insights for potential therapeutic trials based on disease pathogenesis.
Main Methods:
- Literature review of epidemiology, genetics, and pathophysiology.
- Analysis of diagnostic, clinical, radiographic, and pathologic features.
- Synthesis of current management and future therapeutic strategies.
Main Results:
- PAM is linked to NPT2B deficiency, enabling new animal models.
- Disease course is typically slow, leading to progressive respiratory insufficiency.
- No definitive treatments exist, but pathogenesis insights guide future research.
Conclusions:
- Genetic discoveries have advanced understanding of PAM pathogenesis.
- Animal models provide valuable tools for studying the disease.
- Further research into disease mechanisms is crucial for developing effective treatments.
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