Pulmonary Alveolar Microlithiasis

A rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. Most patients are asymptomatic for many years and microliths are found incidentally during an unrelated examination. A 'sandstorm-appearing' chest X-ray is a typical diagnostic finding. Onset varies from the neonatal period to old age, and the disease follows a long-term progressive course, resulting in a slow deterioration of lung functions. About one-third of the reported cases may be familial with autosomal recessive inheritance. Mutations in the SLC34A2 gene have been identified. OMIM: 265100

Networked: 93 relevant articles (2 outcomes, 3 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Rare Diseases (Rare Disease)
2.	Lung Diseases (Lung Disease)
3.	Inborn Genetic Diseases (Disease, Hereditary)
4.	Amyloidosis
5.	Vascular Calcification

Experts

1.	McCormack, Francis X: 5 articles (12/2020 - 11/2015)
2.	Bendstrup, Elisabeth: 4 articles (01/2022 - 09/2012)
3.	Jönsson, Åsa Lina M: 4 articles (01/2022 - 09/2012)
4.	Hilberg, Ole: 3 articles (01/2022 - 09/2012)
5.	Simonsen, Ulf: 3 articles (01/2022 - 09/2012)
6.	Ozcelik, Ugur: 3 articles (08/2016 - 10/2006)
7.	Mogensen, Susie: 2 articles (01/2022 - 01/2020)
8.	Attawar, Sandeep: 2 articles (01/2021 - 11/2019)
9.	Dutta, Prabhat: 2 articles (01/2021 - 11/2019)
10.	Jindal, Apar: 2 articles (01/2021 - 11/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Pulmonary Alveolar Microlithiasis:

1.	Phosphates (Orthophosphate)IBA 01/01/2023 - "Insights into pulmonary phosphate homeostasis and osteoclastogenesis emerge from the study of pulmonary alveolar microlithiasis." 01/01/2022 - "Impaired phosphate transport in SLC34A2 variants in patients with pulmonary alveolar microlithiasis." 12/01/2008 - "To detect the mutation of SLC34A2 in patients with pulmonary alveolar microlithiasis and to study the effect of SLC34A2 on transportation of calcium and phosphate in human alveolar epithelial cell (A549) cells. " 04/01/2020 - "Pulmonary alveolar microlithiasis (PAM) is a rare, autosomal recessive disorder that is caused by mutations in SCL34A2 that encodes for the type IIb sodium-dependent phosphate cotransporter (Npt2b). " 01/01/2018 - "Pulmonary alveolar microlithiasis (PAM) is a rare impairment of pulmonary phosphate clearance that leads to gradual precipitation of intra-alveolar calcium phosphate microliths. "
2.	sodium phosphate (trisodium phosphate)FDA LinkGeneric 01/01/2015 - "The sodium-phosphate co-transporter SLC34A2, and pulmonary alveolar microlithiasis: Presentation of an inbred family and a novel truncating mutation in exon 3." 08/01/2016 - "Pulmonary alveolar microlithiasis (PAM) is a rare genetic disease caused by mutations in sodium-phosphate co-transporter (SLC34A2), which encodes a type 2b sodium phosphate co-transporter. " 07/28/2019 - "BACKGROUND Pulmonary alveolar microlithiasis is an autosomal recessive disease in which a mutation in the SLC34A2 gene that codes for a sodium phosphate type IIb transporter protein (expressed in human epithelial tissues and functions in the clearance of phosphate ions) leads to the formation of extensive pulmonary intra-alveolar microliths. " 01/01/2023 - "Pulmonary alveolar microlithiasis is an autosomal recessive lung disease caused by a deficiency in the pulmonary epithelial Npt2b sodium-phosphate co-transporter that results in accumulation of phosphate and formation of hydroxyapatite microliths in the alveolar space. "
3.	Proteins (Proteins, Gene)FDA Link 12/01/2014 - "SLC34A2 gene compound heterozygous mutation identification in a patient with pulmonary alveolar microlithiasis and computational 3D protein structure prediction." 07/28/2019 - "BACKGROUND Pulmonary alveolar microlithiasis is an autosomal recessive disease in which a mutation in the SLC34A2 gene that codes for a sodium phosphate type IIb transporter protein (expressed in human epithelial tissues and functions in the clearance of phosphate ions) leads to the formation of extensive pulmonary intra-alveolar microliths. " 01/01/2023 - "The single cell transcriptomic analysis of a pulmonary alveolar microlithiasis lung explant showing a robust osteoclast gene signature in alveolar monocytes and the finding that calcium phosphate microliths contain a rich protein and lipid matrix that includes bone resorbing osteoclast enzymes and other proteins suggested a role for osteoclast-like cells in the host response to microliths. "
4.	IonsIBA 07/28/2019 - "BACKGROUND Pulmonary alveolar microlithiasis is an autosomal recessive disease in which a mutation in the SLC34A2 gene that codes for a sodium phosphate type IIb transporter protein (expressed in human epithelial tissues and functions in the clearance of phosphate ions) leads to the formation of extensive pulmonary intra-alveolar microliths. "
5.	CalciumIBA 01/01/2021 - "Pulmonary Alveolar Microlithiasis (PAM) is a rare autosomal recessive end stage lung condition characterized by widespread alveolar deposition of calcium microliths. " 11/01/2019 - "Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive condition characterized by widespread alveolar deposition of calcium microliths. " 03/01/2014 - "Tissue histopathology from open lung biopsy demonstrated widespread intra-alveolar laminated calcium deposits compatible with pulmonary alveolar microlithiasis. " 07/01/1987 - "Pulmonary alveolar microlithiasis is a rare, familial disease with massive symmetrical intra-alveolar calcium deposition. " 10/01/2017 - "Pulmonary alveolar microlithiasis is a rare infiltrative pulmonary disease, in which intraalveolar accumulation of small stones (microliths) consisting of calcium phosphatite occurs. "
6.	Phosphorus (Red Phosphorus)IBA 06/01/1997 - "The findings of this study confirm that pulmonary alveolar microlithiasis can be seen in any age group and that the microliths are composed principally of salts of calcium and phosphorus. " 01/01/2021 - "Pulmonary alveolar microlithiasis is a rare genetic disorder, inherited autosomally recessively, which is characterized by intra-alveolar deposition of microliths built mostly of calcium salts and phosphorus. " 01/01/2016 - "Pulmonary alveolar microlithiasis is a rare diffuse lung disease characterized by widespread sand-like intra-alveolar calcifications (calcospherites composed of calcium and phosphorus). "
7.	SaltsIBA 06/01/1997 - "The findings of this study confirm that pulmonary alveolar microlithiasis can be seen in any age group and that the microliths are composed principally of salts of calcium and phosphorus. " 01/01/2021 - "Pulmonary alveolar microlithiasis is a rare genetic disorder, inherited autosomally recessively, which is characterized by intra-alveolar deposition of microliths built mostly of calcium salts and phosphorus. "
8.	calcium phosphateIBA 03/01/2023 - "Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease characterised by the deposition of calcium phosphate microliths in the alveoli. " 01/01/2022 - "Pulmonary alveolar microlithiasis (PAM) is a rare genetic lung disorder resulting in accumulation of calcium phosphate deposits in the alveoli.The" 01/01/2022 - "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. " 01/01/2021 - "Pulmonary alveolar microlithiasis is a rare autosomal recessive condition that is characterized by the formation of excessive calcium phosphate microliths in the alveoli. " 09/01/2018 - "Pulmonary alveolar microlithiasis (PAM) is an autosomal recessive disorder with distinctive deposition of calcium phosphate microliths in the lungs. "
9.	SodiumIBA 04/01/2020 - "Pulmonary alveolar microlithiasis (PAM) is a rare, autosomal recessive disorder that is caused by mutations in SCL34A2 that encodes for the type IIb sodium-dependent phosphate cotransporter (Npt2b). " 01/01/2020 - "Pulmonary alveolar microlithiasis (PAM) is caused by genetic variants in the SLC34A2 gene, which encodes the sodium-dependent phosphate transport protein 2B (NaPi-2b). " 03/01/2014 - "Pulmonary alveolar microlithiasis is a rare pulmonary disorder that is caused by abnormal sodium-dependent phosphate co-transporter from the mutation of SLC34A2 gene, leading to accumulation of microliths in the alveoli. " 01/01/2023 - "Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive lung disease caused by variants in the SLC34A2 gene encoding the sodium-dependent phosphate transport protein 2B, NaPi-2b. " 01/01/2022 - "Variants in SLC34A2 encoding the sodium-dependent phosphate transport protein 2b (NaPi-IIb) cause the rare lung disease pulmonary alveolar microlithiasis (PAM). "
10.	SymportersIBA 01/01/2015 - "The sodium-phosphate co-transporter SLC34A2, and pulmonary alveolar microlithiasis: Presentation of an inbred family and a novel truncating mutation in exon 3." 08/01/2016 - "Pulmonary alveolar microlithiasis (PAM) is a rare genetic disease caused by mutations in sodium-phosphate co-transporter (SLC34A2), which encodes a type 2b sodium phosphate co-transporter. " 03/01/2014 - "Pulmonary alveolar microlithiasis is a rare pulmonary disorder that is caused by abnormal sodium-dependent phosphate co-transporter from the mutation of SLC34A2 gene, leading to accumulation of microliths in the alveoli. " 01/01/2023 - "Pulmonary alveolar microlithiasis is an autosomal recessive lung disease caused by a deficiency in the pulmonary epithelial Npt2b sodium-phosphate co-transporter that results in accumulation of phosphate and formation of hydroxyapatite microliths in the alveolar space. "

Therapies and Procedures

1.	Continuous Positive Airway Pressure 05/01/1992 - "Improvement in gas exchange with nasal continuous positive airway pressure in pulmonary alveolar microlithiasis."
2.	Lung Transplantation 11/26/2019 - "Single-lung transplantation for pulmonary alveolar microlithiasis: A case report." 04/01/2016 - "A rare indication for lung transplantation - pulmonary alveolar microlithiasis: institutional experience of five consecutive cases." 02/01/2014 - "Right single-lung transplantation for pulmonary alveolar microlithiasis." 03/01/2010 - "Lung transplantation for pulmonary alveolar microlithiasis." 02/01/2010 - "Lung transplantation for pulmonary alveolar microlithiasis: a case report."
3.	Therapeutics 08/01/2010 - "[Progress of diagnosis and therapy in pulmonary alveolar microlithiasis]." 02/01/2008 - "Pulmonary alveolar microlithiasis is a disease without clear known etiology and effective therapy. " 10/01/2003 - "Pulmonary alveolar microlithiasis: an overview of clinical and pathological features together with possible therapies." 01/01/2015 - "Pulmonary alveolar microlithiasis (PAM) is a rare chronic genetic lung disease in childhood with no proven therapy. "
4.	Bronchoscopes 01/01/1983 - "We report the case of a pulmonary alveolar microlithiasis discovered in a patient of 25 years old and demonstrated histologically by transbronchial lung biopsy under flexible bronchoscope."
5.	Liver Transplantation 06/15/2002 - "These include metastatic calcification caused by chronic renal failure and orthotopic liver transplantation, dystrophic calcification caused by granulomatous disorders, DNA viruses, parasitic infections, pulmonary amyloidosis, vascular calcification, the idiopathic disorder pulmonary alveolar microlithiasis, and various forms of pulmonary ossification."