title: Pulmonary Alveolar Microlithiasis.
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.
authors: Department of Biochemistry, Sapporo Medical University, School of Medicine, Sapporo 0608543, Japan; Department of Respiratory Medicine and Allergology, Sapporo Medical University, School of Medicine, Sapporo 0608556, Japan.
authors: Atsushi
authors: A
authors: Saito
authors: Division of Pulmonary, Critical Care, and Sleep Medicine, The University of Cincinnati, MSB 6165, 231 Albert Sabin Way, Cincinnati, OH 45267-0564, USA. Electronic address: frank.mccormack@uc.edu.
authors: Francis X
authors: FX
authors: McCormack
mesh_terms: D050071:Bone Density Conservation Agents / Q000627:therapeutic use*; D002114:Calcinosis / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics / Q000628:therapy*; D002130:Calcium Phosphates / Q000378:metabolism; D012968:Etidronic Acid / Q000627:therapeutic use*; D030342:Genetic Diseases, Inborn / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics / Q000628:therapy*; D006801:Humans; D008171:Lung Diseases / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics / Q000628:therapy*; D016040:Lung Transplantation; D009154:Mutation; D010102:Oxygen Inhalation Therapy; D013902:Radiography, Thoracic; D012131:Respiratory Insufficiency / Q000209:etiology / Q000628:therapy*; D050614:Sodium-Phosphate Cotransporter Proteins, Type IIb / Q000235:genetics; D014057:Tomography, X-Ray Computed
chemical_list: D050071:Bone Density Conservation Agents; D002130:Calcium Phosphates; D050614:Sodium-Phosphate Cotransporter Proteins, Type IIb; C020243:calcium phosphate; D012968:Etidronic Acid
keywords: Congenital disease; Phosphate homeostasis; Pulmonary alveolar microlithiasis; SLC34A2; Type II b sodium-phosphate cotransporter (NPT2B)