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At least 19 recordsLinked to original sources
PubMed2001

[Pulmonary alveolar microlithiasis].

Pulmonary alveolar microlithiasis is a rare disease of unknown aetiology, in which calcium phosphate microliths are deposited bilaterally throughout the lung parenchyma. The total number of reported cases is about 400. A case of pulmonary alveolar microlithiasis is presented in a 50-year old man for whom the diagnosis was confirmed by histology via transbronchial biopsy. During a 4-year observation period there was no increase of the disease according to x-ray investigations and with respect to clinical symptoms.

Biopsy↗
PubMed2002

Pulmonary alveolar microlithiasis.

Pulmonary alveolar microlithiasis is a rare pulmonary disorder of unknown etiology characterized by intra-alveolar development and deposition of microliths or calcispherytes consisting of calcium phosphate. Approximately 400 cases of this rare disorder have been described in the literature. The age range of patients is from newborn to 80 years, with a mean age at diagnosis of about 35 years. No sexual predominance has been noted. In about half of the reported cases, a familial pattern has been found, with the disease usually affecting the siblings. The progression of the disease is generally very slow, some patients having been followed up for more than 30 years without evidence of change. Pulmonary function studies demonstrate a tendency toward a restrictive pattern. Chest roentgenography, high-resolution computed tomographic chest scan, and technetium-99m lung scan are useful in the diagnosis. A definitive diagnosis can be established by bronchoalveolar lavage or lung biopsy. There is no known therapy for this unusual disorder. In patients who develop progressive respiratory insufficiency and cor pulmonale, lung transplantations have been performed.

Journal Article↗
PubMed2006

Elevated serum surfactant protein A and D in pulmonary alveolar microlithiasis.

Pulmonary alveolar microlithiasis (PAM) is a rare disease characterized by widespread localization of calcispherites in the alveolar spaces. The authors report two cases of PAM, with markedly elevated sera concentrations of surfactant protein-A and surfactant protein-D, which showed a tendency to increase as the disease progressed. Therefore, surfactant protein-A and surfactant protein-D may function as serum markers to monitor the disease activity and progression of PAM.

Aged, 80 and over↗
PubMed1997

Bilateral sequential lung transplantation for pulmonary alveolar microlithiasis.

Pulmonary alveolar microlithiasis (PAM) is characterized by deposition of calcium phosphate within the alveolar airspaces. There is currently no effective medical therapy and affected individuals may progress to end-stage lung disease requiring transplantation. Two patients with PAM underwent bilateral sequential lung transplantation. This study reviews the clinical manifestations of PAM and discusses the particular difficulties that may be encountered in the use of lung transplantation as treatment for this uncommon disease. Also addressed is the question of recurrence in the allograft.

Adult↗
PubMed2005

[Pulmonary alveolar microlithiasis].

Pulmonary alveolar microlithiasis (PAM) is a rare, chronic lung disease characterized by extensive intra alveolar calcium and phosphate deposition throughout both lung parenchyma. Etiology and pathogenesis of PAM is not known. There are some hypothesis for etiology and pathogenesis of PAM but none of them are satisfactory. The incidence of PAM is high in countries such as Turkey, Italy and USA. There is a surprising discordancy between radiological appearance and clinical presentation. Chest X-ray appearance of PAM is almost pathognomonic. Patients with PAM may have all findings of interstitial lung disease in varying degrees as well as micro-nodules on their HRCTs. Patients with PAM usually asymptomatic until the underlying process affects alveolar gas exchange however patients may ultimately develop hypoxemia and cor pulmonale. A definitive therapy for PAM did not exist. Patients with advanced lung disease may benefit from lung transplantation.

Calcinosis↗
PubMed1999

High-resolution computed tomography of pulmonary alveolar microlithiasis.

Pulmonary alveolar microlithiasis (PAM) is a rare disease. It has been reported predominantly in Turkey. We report a case of PAM with characteristic high-resolution computed tomography (CT) findings. A 45-year-old Taiwanese woman had progressive difficulty in breathing for 7 years. Her chest radiographs showed diffuse high-density micronodules and reticular lines that obliterated the bronchovascular bundles and the margin of the heart and diaphragm. The micronodules were scattered throughout both lung fields with basal predominance. Examination of a transbronchial lung biopsy specimen showed PAM. High-resolution CT showed a unique and characteristic calcified reticular pattern and thickening of the interlobular septa of the lung parenchyma, with predominant basal and peripheral lung distribution. Reticulonodular changes of the interlobular septa and intralobular interstitial lines associated with subpleural air cysts and paraseptal emphysema were evident. These high-resolution CT findings are pathognomonic for PAM. Thus, lung biopsy may be avoided in the presence of this characteristic finding.

Calcinosis↗
PubMed2006

Mutations in the SLC34A2 gene are associated with pulmonary alveolar microlithiasis.

RATIONALE: Pulmonary alveolar microlithiasis is an autosomal recessive disorder in which microliths are formed in the alveolar space. OBJECTIVES: To identify the responsible gene that causes pulmonary alveolar microlithiasis. METHODS: By means of a genomewide single-nucleotide polymorphism analysis using DNA from three patients, we have narrowed the region in which the candidate gene is located. From this region, we have identified a gene that has mutations in all patients with pulmonary alveolar microlithiasis. MEASUREMENTS AND MAIN RESULTS: We identified a candidate gene, SLC34A2, that encodes a type IIb sodium phosphate cotransporter and that is mutated in six of six patients investigated. SLC34A2 is specifically expressed in type II alveolar cells, and the mutations abolished the normal gene function. CONCLUSION: Mutations in the SLC34A2 gene that abolish normal gene function cause pulmonary alveolar microlithiasis.

Amino Acid Sequence↗
PubMed2006

Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis.

Pulmonary alveolar microlithiasis (PAM) is a rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. We first identified a PAM locus by homozygosity mapping to 4p15, then identified, by a candidate-gene approach, the gene responsible for the disease as SLC34A2 (the type IIb sodium-phosphate cotransporter gene), which is involved in phosphate homeostasis in several organs. We identified six homozygous exonic mutations in the seven unrelated patients with PAM we studied. Three of the mutations were frameshifts, one was a chain termination, one was an amino acid substitution, and one was a deletion spanning the minimal promoter and the first exon. Absence of functional protein product of the gene is compatible with calcium phosphate deposition in alveolar airspaces. We show that impaired activity of the phosphate transporter is presumably responsible for the microliths and that PAM is a recessive monogenic disease with full penetrance. Testicular microlithiasis (TM) is a disease that is more common than PAM. It is often associated with cancer and infertility. Since the gene we identified is also expressed in testis, we searched for mutations in subjects with TM. In 2 of the 15 subjects with TM we studied, we identified two rare variants, one synonymous and the other noncoding, that are possibly associated with the condition.

Chromosome Mapping↗
PubMed2005

High resolution computed tomographic features of pulmonary alveolar microlithiasis.

BACKGROUND: Pulmonary alveolar microlithiasis (PAM) is a rare, chronic lung disease with unknown etiology and with a nonuniform clinical course. Nonuniformity of clinical course might be related to the degree of pulmonary parenchymal alterations, which can be revealed with high resolution computed tomography (HRCT). However, HRCT findings of PAM were not fully described in the current literature. AIM: The aim of this study was to interpret and to contribute to describe HRCT findings of PAM and to investigate a correlation between profusion of micro nodules (MN) and pulmonary parenchymal alterations in patients with PAM. MATERIAL AND METHODS: Ten male patients with PAM (mean age: 22+/-3.2) were included into the study. HRCT images were assessed for patterns, distribution, and profusion of pulmonary abnormalities. Dividing the lungs into three zones, profusion of abnormalities was assessed. A profusion score (1-4) was given and the scores of each zone were then summed to obtain a global profusion score for HRCT ranging from 0 to 12. Also a parenchymal alteration score (PAS) was defined with respect to profusion of abnormalities. Chest X-rays were also scored. RESULTS: All of ten patients with PAM had findings of interstitial lung disease in varying degrees on their HRCTs. HRCT findings of patients with PAM were as following: MN, parenchymal bands (PB), ground glass opacity (GGO) and, sub pleural interstitial thickening (SPIT) in 10 patients; interlobular septal thickening (ILST), in 9 patients; paraseptal emphysema (PSA) in 8 patients; centrilobular emphysema (CLA) in 7 patients; bronchiectasis (BE), confluent micro nodules (CMN) in 6 patients; peri bronchovascular interstitial thickening (PBIT) in 5 patients; panacinar emphysema (PANAA) in 3 patients; pleural calcification (PC) in 2 patients. A significant correlation between MN scores and PAS (r=0.68, p=0.031, MN scores and GGO scores (r=0.69, p=0.027) and, MN scores and CLA scores (r=0.67, p=0.034) was detected. We also found significant correlations between HRCT scores and results of pulmonary function tests (PFTs), HRCT scores and chest X-ray score (CXRS) and, CXRS and results of PFTs. CONCLUSION: We conclude that patients with PAM may have all findings of interstitial lung disease in varying degrees as well as MNs on their HRCTs. More importantly, this study suggests a proportional relationship between profusion of MNs and parenchymal alterations in patients with PAM. This study also suggests that the degree of parenchymal alterations closely related with the degree of pulmonary function loss in patients with PAM.

Adult↗
PubMedDate not supplied

[Pulmonary alveolar microlithiasis. Study of pulmonary circulation].

Pulmonary alveolar microlithiasis is a rare disease of unknown etiology which consists of alveolar deposit of calcium microspheres. We report the procedures for the diagnosis of this disease, as well as the hemodynamic features of the pulmonary circulation. Pulmonary arterial hypertension (PAH), and cor pulmonale were documented. The active and passive factors involved in PAH are analyzed. We conclude that alveolar hypoxia and estructural vascular changes play a major role in the genesis of PAH.

Calculi↗
PubMed1981

The occurrence of extracellular matrix vesicles in pulmonary alveolar microlithiasis.

Mineralization in pulmonary alveolar microlithiasis was studied by transmission electron microscopy. The disease is characterized by psammoma like calcifications composed of hydroxyapatite crystals. The calcifications were surrounded by typical forming cells and matrix composed of collagen fibers arranged in a longitudinal pattern. Abundant calcifying extracellular matrix vesicles were found between the cells and the calcified fronts. The type of calcification found in the present lesion is similar to ectopic primary mineralization in other diseases, embryonal ossification and bone wound healing.

Adult↗
PubMed1988

[Pulmonary alveolar microlithiasis in 2 brothers].

Pulmonary alveolar microlithiasis is a rare disease of unknown cause and pathogenesis, where the pathological substrate is composed of calcium microconcrements inside the alveoli. The lungs are endured with deterioration of respiratory mechanics, ventilation and perfusion disorders and finally pulmonary hypertension and chronic cor pulmonale. The disease follows a slow course extending approximately over 20 years. The authors present two cases of pulmonary alveolar microlithiasis affecting two brothers aged 14 and 19 years respectively. Radiographic findings were typical and impressive. Lung changes were discovered on recruitment in the elder brother and on examination of family members in the younger brother. Both has no complaint and normal respiratory findings. The histopathological diagnosis was made from a sample obtained by bronchoscopic-parabronchial lung biopsy. This report is completed with data from the literature.

Adolescent↗
PubMedDate not supplied

[Diagnostic role of BAL in pulmonary alveolar microlithiasis].

From 1982-90, 3721 fiber bronchoscopies were performed for the diagnostics of diffused alveolar-septal pathologies; BAL was performed in 400 cases. Alveolar pulmonary microlithiasis was diagnosed in 6 patients, and two of them were related. The staging and the evolution of the pathology were evaluated as follows: chest x-ray in various projections, calcemia, lung function tests, fiber bronchoscopy with analysis of BAL and quantitative evaluation of macrophagic and lympho-monocytic elements and in percentage of calcosferitics. Four patients were treated with therapeutic BAL in the lungs with normal saline, and the cytological results and the percentage of calcosferitics were monitored for 24 months.

Adolescent↗
PubMed2002

[Pulmonary alveolar microlithiasis--a rare cause of bilateral extensive pulmonary infiltrates].

BACKGROUND: Pulmonary alveolar microlithiasis is a rare disease, which is characterized by pulmonary deposition of calcium phosphate microliths. The radiographic features can be pathognomonic with a "sandstorm"-like opacification throughout the lungs. CASE REPORT: A 29-year-old Moroccan presented for the first time 1988 with atypical chest pain. His history was characterized by nephrocalcinosis and pulmonary disease. Physical examination and laboratory values were unremarkable. Chest X-ray revealed extensive bilateral pulmonary infiltrates with "sandstorm"-like opacifications. Sonography showed medullary nephrocalcinosis. The diagnosis of pulmonary alveolar microlithiasis was confirmed by transbronchial biopsy. Over the next 13 years there was only a moderate expansion of the pulmonary infiltrates and a beginning restrictive pattern, whereas the patient was almost symptom-free. CONCLUSION: Pulmonary alveolar microlithiasis is a rare cause of bilateral pulmonary infiltrates and should be considered in the differential diagnosis. In some cases there is also an association with calcifications of extrapulmonary organs.

Adult↗
PubMed2004

Absence of pulmonary uptake of Tc-99m methylenediphosphonate in alveolar microlithiasis.

Pulmonary alveolar microlithiasis (PAM) is a rare disease of unknown etiology characterized by accumulation of calcific concretions in the alveolar spaces. The paper reports a case of PAM in a 56-year-old male. The patient had persistent dry cough, and gradually progressive dyspnea on exertion. The diagnosis was established on the basis of roentgenography and confirmed by the sputum and transbronchial biopsy findings. Scintigraphy revealed the absence of Tc-99m methylenediphosphonate uptake of lungs. Familial occurrence was not observed. Chest roentgenogram, pulmonary function, and clinical status of the patient have remained stable for 41 months. Radiological and clinical follow-up of the disease continues.

Humans↗
PubMed1989

[Pulmonary alveolar microlithiasis].

Essential knowledge of pulmonary alveolar microlithiasis is displayed in connection with the instructive case report that points out how important is to bear in mind also such a rare pulmonary disease in a diagnostic procedure.

Calculi↗
PubMed1987

[Quantification of pulmonary alveolar microlithiasis in the CT].

Pulmonary alveolar microlithiasis is a rare, familial disease with massive symmetrical intra-alveolar calcium deposition. Conventional CT findings and CT measurements with a dual energy technique were carried out in a 26-year-old patient suffering from this disease. The importance of the findings in the differential diagnosis and for estimating the progression and prognosis of the disease is discussed.

Adult↗