Pneumothorax secondary to pulmonary alveolar microlithiasis

Devine, Oliver; Harborne, Andrew Christopher

doi:10.1002/ccr3.1452

Cited by 4 publications

(3 citation statements)

References 2 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Pneumothorax is rare in PAM; one large review reported occurrence in 1.6% of patients [3]. There is some evidence that patients with PAM who develop pneumothorax may not respond to routine chest tube management and may require more aggressive pleural interventions such as talc pleurodesis or pleurectomy for resolution [31,32]. One patient with a 17 pack-year smoking history had three recurrences requiring pleurectomy and stapling of apical blebs [33].…”

Section: Signs and Symptomsmentioning

confidence: 99%

Pulmonary alveolar microlithiasis

et al. 2020

View full text Add to dashboard Cite

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.

show abstract

Section: Signs and Symptomsmentioning

confidence: 99%

Pulmonary alveolar microlithiasis

et al. 2020

View full text Add to dashboard Cite

show abstract

“…Devine et al [15] reported a 56-year-old Turkish man of PAM presented with mild dyspnea and a lifelong history of chronic lung disease. Despite pneumothorax, his patient was asymptomatic at rest.…”

Section: Discussionmentioning

confidence: 99%

Pulmonary alveolar microlithiasis and interstitial pneumonitis: a case report of the west of Iran

Ramezani¹,

Aminparast²,

Sadeghi³

2019

BioMedicine

View full text Add to dashboard Cite

Pulmonary alveolar microlithiasis (PAM) is a rare disease with autosomal recessive inheritance. Herein, a 20-year-old lady referred to the hospital with a dry cough for two years. The chest X-ray findings were bilateral reticulonodular opacities in both lungs and honeycomb appearance suspicious for miliary tuberculosis and idiopathic pulmonary fibrosis. A wedge biopsy of lung showed that there were several intraalveolar laminated concretions in the pathology report compatible with pulmonary alveolar microlithiasis and interstitial infiltration of lymphocytes and neutrophils compatible with interstitial pneumonitis. PAM is a rare progressive disease with the production of microliths in pulmonary alveoli. The pathologist, radiologist, and clinician should be familiar with this entity for diagnosis and appropriate management. The family of the patient especially siblings must be evaluated for earlier diagnosis.

show abstract

“…Dyspnoea, dry cough, fatigue, and chest pain are frequent complains in symptomatic patients. Pneumothorax, clubbing, haemoptysis, hypoxia, and cyanosis have been reported [2,3,9,[14][15][16]. Lung function is usually normal or has a restrictive pattern [2].…”

Section: Diagnosis Clinical Characteristics and Treatmentmentioning

confidence: 99%

New insights in the genetic variant spectrum of SLC34A2 in pulmonary alveolar microlithiasis; a systematic review

Jönsson

Hilberg

Simonsen

et al. 2023

Orphanet J Rare Dis

View full text Add to dashboard Cite

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. PAM is characterized by deposition of calcium phosphate crystals in the alveoli. Onset and clinical course vary considerably; some patients remain asymptomatic while others develop severe respiratory failure with a significant symptom burden and compromised survival. It is likely that PAM is under-reported due to lack of recognition, misdiagnosis, and mild clinical presentation. Most patients are genetically uncharacterized as the diagnostic confirmation of PAM has traditionally not included a genetic analysis. Genetic testing may in the future be the preferred tool for diagnostics instead of invasive methods. This systematic review aims to provide an overview of the growing knowledge of PAM genetics. Rare variants in SLC34A2 are found in almost all genetically tested patients. So far, 34 allelic variants have been identified in at least 68 patients. A majority of these are present in the homozygous state; however, a few are found in the compound heterozygous form. Most of the allelic variants involve only a single nucleotide. Half of the variants are either nonsense or frameshifts, resulting in premature termination of the protein or decay of the mRNA. There is currently no cure for PAM, and the only effective treatment is lung transplantation. Management is mainly symptomatic, but an improved understanding of the underlying pathophysiology will hopefully result in development of targeted treatment options. More standardized data on PAM patients, including a genetic diagnosis covering larger international populations, would support the design and implementation of clinical studies to the benefit of patients. Further genetic characterization and understanding of how the molecular changes influence disease phenotype will hopefully allow earlier diagnosis and treatment of the disease in the future.

show abstract

Pneumothorax secondary to pulmonary alveolar microlithiasis

Cited by 4 publications

References 2 publications

Pulmonary alveolar microlithiasis

Pulmonary alveolar microlithiasis

Pulmonary alveolar microlithiasis and interstitial pneumonitis: a case report of the west of Iran

New insights in the genetic variant spectrum of SLC34A2 in pulmonary alveolar microlithiasis; a systematic review

Contact Info

Product

Resources

About