CD8+ T-cell alveolitis in familial pulmonary alveolar microlithiasis

Laurentiis, Guglielmo de; Vitiello, Laura; Means, Anthony; Perna, Francesco; Galgani, Mario; Merola, G.; Carratù, Pierluigi; Maniscalco, Mauro; Sa, Marsico; Miceli, Sofia

doi:10.1183/09031936.00145406

Cited by 6 publications

(1 citation statement)

References 27 publications

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“…Calcified micronodules, ground-glass opacities, interlobular septal thickening, pleural and subpleural calcification and cysts are typical radiological findings seen in HRCT [17,[28][29][30][31][32][33][34][35].…”

Section: Radiological Characteristicsmentioning

confidence: 99%

Pulmonary alveolar microlithiasis: two case reports and review of the literature

Jönsson

Simonsen

Hilberg

et al. 2012

European Respiratory Review

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Pulmonary alveolar microlithiasis is a rare diffuse lung disease characterised by deposition of calcium phosphate within the alveolar airspaces. The disease is usually discovered from birth up to 40 yrs of age and is often diagnosed incidentally during radiography of the chest for other reasons. Many patients are asymptomatic and the majority of patients either have normal or restrictive pulmonary function. The clinical course of the disease varies. While it remains static in some patients, it progresses into pulmonary fibrosis, respiratory failure and cor pulmonale in others. With the exception of lung transplantation, there is no known effective treatment for the disease. Although the aetiology remains unclear, mutations of the solute carrier family 34 (sodium phosphate), member 2 gene (the SLC34A2 gene), which encodes a sodium/phosphate cotransporter, are considered to be the cause of the disease.We present two cases of pulmonary alveolar microlithiasis with different mutations in the SLC34A2 gene that have not been previously described, and a review of the literature.KEYWORDS: Alveolar microlithiasis, genetic polymorphisms, type IIb sodium-dependent phosphate co-transporter P ulmonary alveolar microlithiasis (PAM) is a rare diffuse lung disease. It was first named in 1933 by PUHR [1], and is characterised by deposition of spherical calcium phosphate concretions (microliths) in the alveoli [2][3][4]. Although the aetiology remains unclear, PAM is thought to be an autosomal recessive disease caused by mutations of the solute carrier family 34 (sodium phosphate), member 2 gene (the SLC34A2 gene), which encodes a sodium phosphate cotransporter [5].Herein, we present two cases of PAM with different mutations in the SLC34A2 gene that have not been previously described and, in addition, we review the literature. CASE ONEA 49-yr old male from Denmark was referred to the Dept of Respiratory Medicine, Aarhus University Hospital (Aarhus, Denmark) for diagnostic investigation in April 2005. The patient was adopted, and therefore the family history was unknown. He was complaining of fatigue and progressively worsening dyspnoea over the last 4 yrs. He had no cough or sputum. He was a heavy smoker (30 pack-yrs).Upon first admission, the ECG showed signs of serious ischaemia and he was transferred to the

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Section: Radiological Characteristicsmentioning

confidence: 99%

Pulmonary alveolar microlithiasis: two case reports and review of the literature

Jönsson

Simonsen

Hilberg

et al. 2012

European Respiratory Review

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Pulmonary Alveolar Microlithiasis and Probe-based Confocal Laser Endomicroscopy

Yserbyt

Alamé²,

Dooms³

et al. 2013

Journal of Bronchology &Amp; Interventional Pulmonology

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Pulmonary alveolar microlithiasis (PAM) is a rare disease in which calcium-phosphate microliths accumulate within the alveolar space. We report cases of 2 siblings with PAM, presenting differently as regards the distribution and clinical severity. Immune cytologic analysis of bronchoalveolar lavage showed a CD4 alveolitis in the radiologically most affected patient, whereas the least affected had a normal bronchoalveolar lavage analysis, demonstrating the low specificity of immune cytologic lavage analysis in diagnosing familial PAM. For the first time, we describe the endoscopic findings using a probe-based confocal laser endomicroscopy.

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Imaging Calcific Concretions of Pulmonary Alveolar Microlithiasis With PET

Basu

Shah²,

Joshi³

et al. 2012

Clinical Nuclear Medicine

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A case of 18F-FDG PET in pulmonary alveolar microlithiasis with bilateral reticulonodular opacities in the middle and lower zones on routine chest roentgenogram and calcification in the peribronchovascular interstitium,peribronchovascular and subpleural intralobular septal regions, and visceral pleura on high-resolution chest CT is presented. 18F-fluoride PET demonstrated intense tracer uptake in the lower zone of both lungs corresponding to CT findings. Minimal FDG activity in areas of dense calcification suggests minimal or no inflammation. This could account for the absence of symptoms in most cases despite remarkable imaging findings.

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CD8+ T-cell alveolitis in familial pulmonary alveolar microlithiasis

Cited by 6 publications

References 27 publications

Pulmonary alveolar microlithiasis: two case reports and review of the literature

Pulmonary alveolar microlithiasis: two case reports and review of the literature

Pulmonary Alveolar Microlithiasis and Probe-based Confocal Laser Endomicroscopy

Imaging Calcific Concretions of Pulmonary Alveolar Microlithiasis With PET

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