Pulmonary Alveolar Microlithiasis Research Articles

Pulmonary alveolar microlithiasis in an alpaca (Vicugna pacos)

Pulmonary alveolar microlithiasis (PAM) is a rare, familial disease of unknown aetiology characterised by intra-alveolar formation and accumulation of microliths. Multiple formalin-fixed tissues were submitted from a 5-month-old female alpaca that died suddenly without significant clinical signs. No gross abnormalities were observed on postmortem examination. Histological findings included PAM and severe centrilobular hepatic necrosis. Although the hepatic lesion was the likely cause of death, PAM was an incidental finding that has not been reported previously in alpacas. An overview of PAM, including pathogenesis and histopathological characteristics, are discussed in relation to the concurrent hepatic disease in the present case.

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

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 co-transporter, 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.

Imaging Calcific Concretions of Pulmonary Alveolar Microlithiasis With PET

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.

A case of pulmonary alveolar microlithiasis with Cor Pulmonale.

Pulmonary alveolar microlithiasis (PAM) is a rare disease characterized by the formation and deposition of microliths within the alveoli and a paucity of symptoms in contrast to the imaging findings. It has familial tendency and is thought to be an autosomal recessive disorder with the mutation in the SLC34A2 gene. We describe a case of PAM with Cor Pulmonale. Ultrasonic cardiogram showed pulmonary hypertension (82 mmHg). Chest radiography revealed diffuse, bilateral sandstorm-like micronodules with greater density in the lower lung fields. HRCT scans demonstrated diffuse ground-grass opacities, thickening and calcification of interlobular septa and confluent calcified nodules. A diagnosis of PAM was suggested and confirmed by transbronchial lung biopsy (TBLB).

Pulmonary alveolar microlithiasis: a case report and review of the literature

A 12-year-old girl of Turkish descent was referred 6 weeks after an influenza A infection because of persistent chest X-ray abnormalities compatible with interstitial lung disease. The clinically suspected diagnosis of pulmonary alveolar microlithiasis (PAM) supported by pathognomonic radiological abnormalities was confirmed by genetic analysis. The clinical presentation of PAM is illustrated by a case and review of the current literature on this subject: you only see what you know.

Images- Pulmonary Alveolar Microlithiasis (PAM)

Pulmonary alveolar microlithiasis (PAM) is a rare disease of unknown origin in which calcific concretions collect in alveolar spaces. No known cause for the disease had been identified and there appears to be no systemic disorder of calcium metabolism. Plain chest X-ray shows a white lung consisting of fine sandlike micro calcification diffusely scattered throughout both lungs with high density at lung basis. CT reveals ground glass haze with inter and intra lobular septal thickening suggestive of crazy paving pattern. We here report the typical X-ray and HRCT images of a case of PAM: a rare disease characterized by wide spread sand like intra alveolar calcifications.

Pulmonary Alveolar Microlithiasis with Homozygous c.316g>C (p.G106R) Mutation: A Case Report

Pulmonary alveolar microlithiasis is characterized by the presence of calcospherites in alveolar spaces. Sporadic cases are more common, but the disease also presents in an inherited familial form. The greatest number of reported cases is from Europe and especially Turkey. We present a 43-year-old female with complaints of dyspnea for many years. She had a suspicious familial history of pulmonary alveolar microlithiasis. The surgical lung biopsy specimen appeared gritty and firm. Histological sections showed diffuse involvement of the lung parenchyma by innumerable tiny calcospherites. Genetic studies showed a homozygous c.316G > C (p.G106R) mutation in exon 4 and confirmed the diagnosis of pulmonary alveolar microlithiasis. The present report aims to contribute to the literature with a pathologically and genetically confirmed new case to add insight into the etiology of this rare disease. This case confirms an autosomal recessive inheritance and does not support the role of non-genetic and other factors in the pathogenesis of pulmonary alveolar microlithiasis.

Pulmonary Alveolar Microlithiasis in Children: Case Series and Review of Literature.

Pulmonary alveolar microlithiasis is rare in children. It presents as a chronic disease with early asymptomatic course and is usually idiopathic. Characteristic radiology and high index of suspicion can lead to early diagnosis by lung biopsy. Treatment with drugs targeting phosphate metabolism may be beneficial. We present a series of 3 pediatric cases confirmed by lung biopsies, along with review of literature.

Pulmonary Alveolar Microlithiasis

We present images obtained immediately pre-mortem from a 60-year-old woman with long-standing pulmonary alveolar microlithiasis. Posterior– anterior digital chest radiograph (Figure 1A) exhibits the characteristic bilateral diffuse micronodular ‘‘sandstorm’’ radiographic pattern. Chest computed tomography (Figure 1B) shows bilateral confluent micronodular parenchymal and pleural calcification (left; soft-tissue window; white arrows), and interstitial thickening/fibrosis (right; lung parenchymal window; additional opacities). Whole-body 99mTechenetium-methylene diphosphonate scintigraphy (Figure 1C) shows diffusely increased radiotracer uptake over the lungs (arrows). Microlithiasis has been linked to mutations in the alveolar phosphate-sodium co-transporter SLC34A2 (1). The pathophysiology of calcium phosphate deposition in the alveolar spaces is reviewed elsewhere (2).

Pulmonary Alveolar Microlithiasis

Pulmonary alveolar microlithiasis (PAM) is a rare idiopathic disease characterized by microliths in the lungs which is usually asymptomatic and often diagnosed incidentally. Here we discuss a case of a young woman while evaluating for surgery presented with an abnormal chest X ray of bilateral diffuse nodular opacities. Patient was completely asymptomatic. High resolution CT scan revealed crazy paving pattern, black pleura sign, and pleural calcification typical findings of pulmonary alveolar microlithiasis. CT guided lung biopsy confirmed the diagnosis. Keyword: Black pleura sign; calcium deposition; crazy paving pattern; pulmonary alveolar microlithiasis DOI: 10.3329/jom.v12i1.6111J Medicine 2011; 12 : 55-57

Pulmonary alveolar microlithiasis with low fluorodeoxyglucose accumulation in PET/computed tomography

Pulmonary alveolar microlithiasis (PAM) is an uncommon lung disease characterized by accumulation of intraalveolar calcifications. The disease can be diagnosed based on the radiological findings. We present a 27-year-old women with five-year history of shortness of breath. She was diagnosed with PAM due to the presence of the characteristic chest X-ray and thorax computed tomography (CT) findings. We performed 18F-fluorodeoxyglucose (FDG)-PET/CT imaging in order to detect any evidence of inflamation in the lung before deciding an anti-inflammatory treatment. The lung regions with dense calcifications revealed low FDG uptakes (SUVmax: 2.7) and the lung regions without calcifications showed lower FDG uptakes. No further treatment modality was planned besides inhaler salbutamol. Herein, we discuss this rare entity with literature search.

A Case of Pulmonary Alveolar Microlithiasis

Pulmonary alveolar microlithiasis (PAM) is a rare disease with unknown etiology and pathogenesis. It is characterized by diffuse, innumerable, and minute calculi, called microlithiasis in the alveoli. More than half of reported cases are asymptomatic at the time of diagnosis. We describe the first case of PAM in Korea. A 19-yr-old man without respiratory symptoms presented with interstitial thickening on the chest radiograph. His chest high resolution CT scan showed diffusely scattered, ill defined tiny micronodules and interstitial thickening. Open lung biopsy confirmed the diagnosis of PAM. He was followed up for 6 months without treatment, and no progression was noticed.

Pulmonary alveolar microlithiasis

Pulmonary alveolar microlithiasis is a rare disease of unknown cause. We report a case in a young boy who presented with history of failure to thrive and chest X-ray finding suggestive of miliary mottling. Open lung biopsy revealed pulmonary alveolar microlithiasis.

A Case of Pulmonary Alveolar Microlithiasis

Pulmonary alveolar microlithiasis is a rare disease of unknown etiology that is characterized by the presence of calcific concentrations in the alveolar spaces. The radiographic appearance is pathognomonic. Plain chest radiographs show a white lung or sandstorm lung consisting of fine sand like microcalcifications diffusely scattered throughout both lungs with a higher density at the lung bases. We now report the case of a 67-year-old male whose diagnosis was based on characteristic findings on a chest X-ray and a high-resolution computed tomography scan.

New mutation associated to the pulmonary alveolar microlithiasis

New mutation associated to the pulmonary alveolar microlithiasis

Long‐term results of disodium etidronate treatment in pulmonary alveolar microlithiasis

Pulmonary alveolar microlithiasis (PAM) is a rare disease with alveolar microliths mainly composed of calcium phosphate. The gene responsible for the disease is SLC34A2, which encodes a type-IIb sodium phosphate cotransporter, has been described recently. Treatment of this disease is not clearly defined. Disodium etidronate is a member of bisphonates and it has been administered in these patients due to its inhibitory effect on the precipitation of hydroxyapatite microcrystals. Here, clinical and radiological improvement of two patients with PAM who were treated with disodium etidronate for 9 and 11 years, respectively, are presented. The pathogenetic mechanism of this treatment on the genetic basis of disease is discussed.

Mutations in the gene of human type IIb sodium-phosphate cotransporter SLC34A2

Type IIb sodium-phosphate cotransporter (NaPi2b) provides phosphate intake in the cells of some epithelial tissues, osteoblasts and odontoblasts. Abnormal expression of NaPi2b has been detected in some types of epithelial tumors. An alteration in NaPi2b activity, caused by mutations in transporter gene SLC34A2, has been recently revealed in patients with pulmonary alveolar microlithiasis, an autosomal recessively inherited disease, characterized by deposition of calcium-phosphate precipitates in the lungs. In the present study we have combined the information about all mutations found to date in the coding sequence of SLC34A2 and its transcript, compiled their map, and analysed their relevance to the function of NaPi2b.

Mutation analysis and serum FGF23 level in a patient with pulmonary alveolar microlithiasis

Pulmonary alveolar microlithiasis (PAM) is a rare, hereditary disorder characterized by ectopic formation of calcium-phosphate microliths in the alveolar space. PAM has been reported to arise from inactivating mutations in SLC34A2, encoding a sodium-dependent phosphate co-transporter essential for phosphate transport in the lungs and small intestine. Serum levels of the phosphaturic hormone fibroblast growth factor-23 (FGF23) in PAM have not been determined. Our objectives were to investigate the genetic etiology and circulating level of FGF23 in a 50-year-old male with clinical characteristics of PAM and extra-pulmonary calcifications. The SLC34A2 and FGF23 genes were sequenced for mutations and serum FGF23 analyzed by ELISA. We found no disease-causing mutations or single nucleotide polymorphisms in the genes investigated. Importantly, repeated measurements revealed undetectable or markedly low serum FGF23 (<3-11 RU/ml). Surprisingly, in the face of low serum FGF23, 1,25-dihydroxy vitamin D₃ level was low-normal and parathyroid hormone mildly elevated. Total 24-h urinary excretion of phosphate and calcium were low, as was fractional urinary excretion of calcium. In contrast, fractional excretion of phosphate was above normal, likely due to elevated PTH. Collectively, PAM may be a polygenic disorder that arises from mutations other than in SLC34A2. The low FGF23 level in our PAM patient supports an intestinal-bone axis, leading to decreased FGF23 expression when intestinal phosphate absorption is compromised.

A Frame-Shift Mutation in the SLC34A2 Gene in Three Patients with Pulmonary Alveolar Microlithiasis in an Inbred Family

Pulmonary alveolar microlithiasis (PAM) is a rare disease characterized by the presence of small calculi in the alveolar space. The SLC34A2 is thought to be responsible for the disease. We encountered three siblings of an inbred family who have PAM. We examined the family of the proband who was admitted with dyspnea on exertion and cough, and eventually was diagnosed with PAM. Genetic analysis revealed that both parents (a consanguineous marriage) of the proband were carriers with heterozygous mutation of SLC34A2 gene, and three of their children were diagnosed with PAM with homozygous mutation in the SLC34A2 gene. These findings suggest that impaired activity of the SLC34A2 gene may be responsible for familial PAM.

Pulmonary alveolar microlithiasis with calcified pleural plaques

Pulmonary alveolar microlithiasis (PAM) is a rare disease. Herein we report a case of pulmonary alveolar microlithiasis who was suspected to have the disease on chest X-ray and was confirmed on high resolution CT and transbronchial lung biopsy. These investigations showed characteristic features of pulmonary alveolar microlithiasis with diffuse interstitial pulmonary fibrosis.