Pulmonary alveolar microlithiasis

2010 ◽  
pp. 3454-3455
Author(s):  
D.J. Hendrick
Keyword(s):  
Lung Transplantation ◽  
Effective Treatment ◽  
Chest Radiograph ◽  
Sodium Phosphate ◽  
Unknown Mechanism ◽  
Family Screening ◽  
Pulmonary Alveolar Microlithiasis ◽  
Alveolar Microlithiasis

Pulmonary alveolar microlithiasis is caused by mutations of the type IIb sodium phosphate cotransporter gene, which by an unknown mechanism leads to the accretion of calcified microliths in the lungs. Almost invariably the patient is symptom free when the diagnosis is made after a chest radiograph is taken incidentally (or during family screening) and reveals profuse small calcified nodules. Patients usually survive 10–20 years from diagnosis, lung transplantation being the only effective treatment in severe cases....

Pulmonary alveolar microlithiasis

2020 ◽  
pp. 4265-4267
Author(s):  
S. J. Bourke
Keyword(s):  
Respiratory Failure ◽  
Calcium Phosphate ◽  
Lung Transplantation ◽  
Gene Mutation ◽  
Chest Radiograph ◽  
Advanced Disease ◽  
Alveolar Air ◽  
Pulmonary Alveolar Microlithiasis ◽  
Severity Of The Disease ◽  
Alveolar Microlithiasis

Pulmonary alveolar microlithiasis is characterized by the deposition of calcium phosphate in the alveolar air spaces as a result of mutations of the SLC34A2 gene. The diagnosis is often made before symptoms have developed when a chest radiograph is performed for other reasons, and shows a dramatic typical ‘sandstorm’ pattern of diffuse bilateral calcified micronodules. The patient is often symptom-free when the diagnosis is made after a chest radiograph is taken incidentally and reveals calcified micronodules, but typically the disease progresses to respiratory failure over about 10–20 years. Etidronate has led to improvement in some cases that have been detected early. Lung transplantation is the main option in advanced disease. The severity of the disease and prognosis are variable, and this may be influenced by the specific type of gene mutation. Survival of 10–20 years from the onset of symptoms is typical.

scholarly journals Comprehensive Imaging-Guided Optimization of the Surgical Management of Patients with Pulmonary Alveolar Microlithiasis

2020 ◽  
pp. 1-3
Author(s):  
Laurent Dercle ◽  
Aiping Chen ◽  
Fatima-Zohra Mokrane ◽  
Laurent Dercle
Keyword(s):  
Lung Transplantation ◽  
Lung Disease ◽  
Effective Treatment ◽  
Surgical Management ◽  
Poor Prognosis ◽  
State Of The Art ◽  
Pulmonary Alveolar Microlithiasis ◽  
Current State ◽  
Treatment Paradigm ◽  
Alveolar Microlithiasis

Pulmonary alveolar microlithiasis (PAM) is a rare lung disease with poor prognosis. The only effective treatment to date, is lung transplantation in the severest cases. However, the etiology of PAM has been recently deciphered, and the treatment paradigm is shifting. We report a case of PAM and propose an optimized imaging-guided management based on the current state of the art.

scholarly journals The sodium-phosphate co-transporter SLC34A2, and pulmonary alveolar microlithiasis: Presentation of an inbred family and a novel truncating mutation in exon 3

2015 ◽  
Vol 16 ◽  
pp. 77-80 ◽  
Author(s):  
Marco Favio Michele Vismara ◽  
Emma Colao ◽  
Fernanda Fabiani ◽  
Francesco Bombardiere ◽  
Oscar Tamburrini ◽  
...  
Keyword(s):  
Sodium Phosphate ◽  
Pulmonary Alveolar Microlithiasis ◽  
Truncating Mutation ◽  
Alveolar Microlithiasis ◽  
Inbred Family

scholarly journals Lung transplantation for pulmonary alveolar microlithiasis

2010 ◽  
Vol 139 (3) ◽  
pp. e50-e52 ◽  
Author(s):  
Norihisa Shigemura ◽  
Christian Bermudez ◽  
Brack G. Hattler ◽  
Bruce Johnson ◽  
Maria Crespo ◽  
...  
Keyword(s):  
Lung Transplantation ◽  
Pulmonary Alveolar Microlithiasis ◽  
Alveolar Microlithiasis

scholarly journals PULMONARY ALVEOLAR MICROLITHIASIS. DISCREPANCIES BETWEEN RADIOLOGICAL FINDINGS AND CLINICAL PATTERN- CASE STUDY

2021 ◽  
Vol 74 (9) ◽  
pp. 2235-2240
Author(s):  
Aleksandra Oraczewska ◽  
Marek Ochman ◽  
Mariola Ograbek-Król ◽  
Wiktoria Kowalska ◽  
Klaudia Glinka ◽  
...  
Keyword(s):  
Lung Transplantation ◽  
Computer Tomography ◽  
Lung Transplant ◽  
Genetic Disorder ◽  
Clinical Signs ◽  
Pulmonary Alveolar Microlithiasis ◽  
Computer Tomography Scan ◽  
Alveolar Microlithiasis ◽  
Tomography Scan

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. This case study describing management of patient with pulmonary alveolar microlithiasis. A 49-year-old woman, diagnosed with pulmonary microlithiasis in 1979 was admitted to Pneumology Department due to increased dyspnea. On admission there were no clinical signs of active infection. The chest computer tomography scan confirmed the presence of advanced microlithiasis. Pulmonary function test revealed mild restriction with moderate diffusion impairment, due to severe hypoxemia present on 6-minute walking test patient was sent for specific assessment to local lung transplant team in Zabrze for consideration for lung transplantation. According to International Society for Heart & Lung Transplantation guidelines the patient was observed in 6 months intervals to reveal whether further disease progression will be observed. Clinical condition of our patient does not correlate with radiological scans, severe respiratory symptoms and cardiological complications. Computer tomography scan should not be the only indication for lung transplant.

Sequential bilateral lung transplantation for pulmonary alveolar microlithiasis

1993 ◽  
Vol 56 (4) ◽  
pp. 972-975 ◽  
Author(s):  
George Stamatis ◽  
Hans-reinhard Zerkowski ◽  
Norbert Doetsch ◽  
Dieter Greschuchna ◽  
Nikolaus Konietzko ◽  
...  
Keyword(s):  
Lung Transplantation ◽  
Pulmonary Alveolar Microlithiasis ◽  
Bilateral Lung Transplantation ◽  
Bilateral Lung ◽  
Alveolar Microlithiasis

scholarly journals Pulmonary alveolar microlithiasis

2020 ◽  
Vol 29 (158) ◽  
pp. 200024
Author(s):  
Patrick Kosciuk ◽  
Cristopher Meyer ◽  
Kathryn A. Wikenheiser-Brokamp ◽  
Francis X. McCormack
Keyword(s):  
Animal Models ◽  
Disease Management ◽  
Sodium Phosphate ◽  
Clinical Manifestations ◽  
Disease Course ◽  
Disease Pathogenesis ◽  
Pulmonary Alveolar Microlithiasis ◽  
Pathologic Features ◽  
Alveolar Microlithiasis ◽  
Molecular Pathophysiology

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.

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