Abstract
Pulmonary alveolar microlithiasis (PAM) is a genetic lung disorder that is characterized by the accumulation of calcium phosphate deposits in the alveolar spaces of the lung. Mutations in the type II sodium phosphate cotransporter, NPT2b, have been reported in patients with PAM. PAM progresses gradually, often producing incremental dyspnea on exertion, desaturation in young adulthood, and respiratory insufficiency by late middle age. Treatment remains supportive, including supplemental oxygen therapy. For patients with end-stage disease, lung transplantation is available as a last resort. The recent development of a laboratory animal model has revealed several promising treatment approaches for future trials.
Keywords:
Congenital disease; Phosphate homeostasis; Pulmonary alveolar microlithiasis; SLC34A2; Type II b sodium-phosphate cotransporter (NPT2B).
Published by Elsevier Inc.
MeSH terms
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Bone Density Conservation Agents / therapeutic use*
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Calcinosis / complications
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Calcinosis / diagnostic imaging
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Calcinosis / genetics
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Calcinosis / therapy*
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Calcium Phosphates / metabolism
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Etidronic Acid / therapeutic use*
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Genetic Diseases, Inborn / complications
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Genetic Diseases, Inborn / diagnostic imaging
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Genetic Diseases, Inborn / genetics
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Genetic Diseases, Inborn / therapy*
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Humans
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Lung Diseases / complications
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Lung Diseases / diagnostic imaging
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Lung Diseases / genetics
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Lung Diseases / therapy*
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Lung Transplantation*
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Mutation
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Oxygen Inhalation Therapy*
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Radiography, Thoracic
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Respiratory Insufficiency / etiology
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Respiratory Insufficiency / therapy*
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Sodium-Phosphate Cotransporter Proteins, Type IIb / genetics
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Tomography, X-Ray Computed
Substances
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Bone Density Conservation Agents
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Calcium Phosphates
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Sodium-Phosphate Cotransporter Proteins, Type IIb
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calcium phosphate
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Etidronic Acid
Supplementary concepts
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Pulmonary Alveolar Microlithiasis