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The article highlights contemporary views on the pathogenetic mechanisms of development, pathomorphology of alveolar proteinosis and alveolar microlithiasis: two of the most severe hereditary pulmonary diseases. The relevance of the problem is due to the complexity of diagnosis, the lack of effective methods of pathogenetic therapy and high mortality rate. The age of alveolar proteinosis and alveolar microlithiasis manifestation is determined. Both diseases are characterized by the absence of pathognomonic clinical symptoms: the symptoms of pulmonary failure and further heart heart failure dominate in the clinical picture. With alveolar proteinosis, a short-term therapeutic effect is determined by bronchoalveolar lavage, granulocyte-colony stimulating factor, posyndromic therapy; lung transplantation is relatively effective. In alveolar microlithiasis, only symptomatic therapy and, in some cases, lung transplantation is performed.

Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease characterized by intraalveolar accumulation of microliths. PAM is described as the formation and accumulation of calcium phosphate microliths in the alveoli after mutations in the SLC34A2 gene. The patients may be asymptomatic or present with heterogeneous signs such as dyspnea, cough, sputum, weakness, chest pain and hemoptysis. Recurrent pneumothoraces may occur over the course of the disease in advanced cases. Her, it was aimed to report a case of a 40-year-old female presenting with chest pain, sore throat, cough and green sputum for the past two months. Chest radiography and computed tomography showed pneumomediastinum and subcutaneous emphysema which have not been reported in previous studies due to PAM. Bronchoscopy with bronchoalveolar lavage (BAL) and mucosal biopsy were done after pneumomediastinum had cleared. BAL result was concordant with pulmonary alveolar microlithiasis. Diagnosis can be made with computed tomography but may necessitate histopathological verification for definitive diagnosis., Pulmoner alveolar mikrolitiyazis (PAM), intraalveolar mikrolit birikimi ile karakterize, nadir görülen otozomal resesif bir hastalıktır. PAM, SLC34A2 genindeki mutasyonlardan sonra alveollerde kalsiyum fosfat mikrolitlerinin oluşumu ve birikmesi olarak tanımlanmıştır. Hastalar asemptomatik olabileceği gibi dispne, öksürük, balgam, halsizlik, göğüs ağrısı ve hemoptizi gibi heterojen belirtiler de gösterebilir. Hastalığın seyri boyunca, ileri vakalarda tekrarlayan pnömotoraks atakları meydana gelebilir. Biz son iki aydır göğüs ağrısı, boğaz ağrısı, öksürük ve yeşil balgam şikayetleri ile başvuran 40 yaşındaki bir kadın hastayı sunuyoruz. Göğüs radyografisi ve bilgisayarlı tomografide (BT), pulmoner alveolar mikrolitiazise bağlı mikronodüllere ek olarak, daha önce bilimsel yayınlarda bildirilmeyen pnömomediastinum ve subkutanöz amfizem görüldü. Pnömomediastinum geriledikten sonra bronkoskopi ile bronkoalveolar lavaj (BAL) ve mukozal biyopsi örneklemeleri yapıldı. BAL sonucu pulmoner alveolar mikrolitiyazis ile uyumlu olarak geldi. Tanı bilgisayarlı tomografi ile konulabilir ancak kesin tanı için histopatolojik verifikasyon gerekebilir.

Pulmonary alveolar microlithiasis is rare disease characterized by accumulation of calcium phosphate microlithis in the alveoli. The pathogenesis relates to mutation in the gene SLC34A2 (solute carrier family 34 member 2) located on chromosome 4p15.2, which produces a defective sodium-phosphate cotransporter in alveolar epithelial type-2 cells, making these cells unable to clear phosphorus released during recycling of surfactant [1]. Keywords: SLC34A2 gene, Alveolar microlithiasis, Interstitial lung disease, Bone scan scintography of the lung, Hypoxemia, Lung calcification

Airspace predominant diseases characterized by accumulation in the alveoli of various substations, such as protein and lipid complexes (alveolar proteinosis, lipoid pneumonia), calcium phosphorus calcinates (alveolar microlithiasis), blood (alveolar hemorrhages). These diseases can have a long chronic course (alveolar proteinosis, alveolar microlithiasis), and be life-threatening, accompanied by acute respiratory failure (diffuse alveolar hemorrhage). The chapter discusses the specific signs of these diseases, the risks factors and possible causes of development, the principles of differential diagnosis and treatment approaches.

A 10-year-old, neutered female, Australian Shepherd was referred for acute respiratory distress and a history of chronic exogenous steroid administration. On thoracic radiographs, a severe increase in mineral opacity characterized as a generalized unstructured interstitial pulmonary pattern, diffuse calcinosis cutis, and moderate hepatomegaly were noted. Cor pulmonale was identified on echocardiography. The patient developed a pneumothorax following sampling and had a cardiac arrest. Postmortem histopathology of the lungs revealed pulmonary interstitial mineralization and alveolar microlithiasis. This report supports including generalized pulmonary mineralization due to chronic exogenous steroid administration as a differential diagnosis for dogs with these clinical and imaging findings.

Pulmonary alveolar microlithiasis is a rare infiltrative pulmonary disease, in which intraalveolar accumulation of small stones (microliths) consisting of calcium phosphatite occurs. It is an autosomal recessive disorder. The disease occurs as a result of the disruption of type IIb sodium phosphate cotransporter in type II alveolar cells after the mutation of SLC34A2. Majority of patients are diagnosed between age 20 and 40. Here, we present a case of alveolar microlithiasis that was diagnosed with transbronchial biopsy.

La microlithiase alveolaire (MLA) est une affection rare, caracterisee par l’accumulation de concretions calciques dans la lumiere alveolaire pulmonaire. Nous rapportons un nouveau cas de MLA, suspecte a la radiographie thoracique et confirme par le scanner thoracique dont l’aspect est pathognomonique et par la biopsie pulmonaire transbronchique. La MLA est souvent asymptomatique contrastant avec l’importance des lesions radiologiques qui sont caracteristiques. L’etiologie de cette pathologie est inconnue, mais une origine genetique avec transmission autosomique recessive est soupconnee avec mutation du gene SLC34A2. Mots cles: Microlithiase alveolaire, calcospherite, imagerie, calcifications pulmonaires, gene SLC34A2 English Title: Alveolar microlithiasis: about a new case English Abstract Alveolar microlithiasis (AM) is a rare disease, characterized by the accumulation of calcium concretions in the pulmonary alveolar lumen. We report a new case of AM suspected on chest X-ray and confirmed by chest CT scan, whose appearance was pathognomonic, and by transbronchial pulmonary biopsy. AM is often asymptomatic, contrasting with the importance of lesions on X-ray which are characteristics of this disease. The cause of this disease is unknown. However autosomal recessive inheritance with mutation in the SLC34A2 gene is suspected. Keywords: Alveolar microlithiasis, calcospheritis, imaging, pulmonary calcifications, SLC34A2 gene

Introduction Pulmonary Alveolar Microlithiasis (PAM) is a rare disorder that can affect patients at any age, although it is more common to present in the third and fourth decades of life. Most patients are asymptomatic at the time of diagnosis. However, some may present with symptoms of dyspnea or cough. PAM can be sporadic, or it can be hereditary. Aim To focus on the importance of using chest CT scans along with bone scintigraphy to aid in the diagnosis of PAM. The importance of screening all family members is also addressed. Case report In our case, the patient was a 21-year-old male, coming for routine check-up to be recruited in the army. He was referred to our clinic after the examining doctor noticed that his chest X-Ray was not normal. Upon revising his chest X-ray, he was found to have bilateral fine reticular infiltrates. His physical examination was unremarkable. His spirometry and DLCO were normal. A high-resolution chest CT scan was done, and showed diffuse bilateral microcalcifications with bilateral interstitial and septal thickening. To confirm the diagnosis of PAM, a Technetium-99m methylene diphosphonate (Tc-99m MDP) whole body bone scintigraphy was done, and it showed diffusely increased radiotracer uptake in both lungs. His family members were screened for PAM. His father and sister, who were completely asymptomatic and with normal pulmonary function tests, were found to have PAM as well. Conclusion The use of bone scintigraphy plays an integral role in diagnosing patients with radiological findings consistent with PAM, and it can diagnose PAM without the need for invasive procedures. Once diagnosed, screening of all family members for PAM should be done, even when they are asymptomatic, as more than one-third of the cases have a familial pattern.

Pulmonary alveolar microlithiasis is a rare diffuse lung disease characterized by widespread sand-like intra-alveolar calcifications (calcospherites composed of calcium and phosphorus). Around 800 cases have been reported in the literature to date. We report here a case of a 35 years old female with prolonged h/o of exertional dyspnoea and mild cough. Clinical examination was mostly normal. Her Chest X-Ray revealed bilateral multiple nodular opacities (sand storm appearance). CT Scan chest showed diffuse micronodular calcifications with septal thickening, compatible with alveolar microlithiasis. Pulmonary function tests showed moderately restrictive lung disease. Bronchoscopic alveolar lavage revealed calcospherites in the alveloli and bronchi confirming the diagnosis of pulmonary alveolar microlithiasis.

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.

La microlitiasis pulmonar alveolar es una enfermedad infrecuente, de etiologia desconocida, caracterizada por la presencia de multiples microcalcificaciones intraalveolares y de predominio subpleural. Presentamos un caso en el que las imagenes de tomografia computarizada de alta resolucion (TCAR) muestran microcalcificaciones difusas pulmonares junto con areas parcheadas en vidrio deslustrado asociadas a marcado engrosamiento de los septos interlobulillares, todo ello en conjunto adopta un patron “en empedrado” (crazy-paving pattern). Este patron no es especifico de la enfermedad, sino que previamente se ha descrito asociado a otras entidades entre las que incluyen la proteinosis alveolar, neumonia lipoidea y el carcinoma bronquiolo-alveolar16-22.

Pulmonary alveolar microlithiasis is a rare pulmonary disorder that is caused by abnormal sodium-dependent phosphate co-transporter from the mutation of SLC34A2 gene, leading to accumulation of microliths in the alveoli. We report the extensive pulmonary alveolar microlithiasis in an elderly woman who presented with progressive dyspnea for 2 months. Chest radiograph revealed diffuse pulmonary calcification. Tissue histopathology from open lung biopsy demonstrated widespread intra-alveolar laminated calcium deposits compatible with pulmonary alveolar microlithiasis.

Pulmonary alveolar microlithiasis (PAM) is an uncommon chronic disease characterized by calcifications within the alveoli and a paucity of symptoms in contrast to the imaging findings. It occurs sporadically and it is regarded as an autossomal recessive lung disease. The pathogenesis of PAM has yet to be elucidated. The disorder has a protracted course and there is no treatment available. We report a case of 21 years-old male who presented to us with complaint of exertional breathlessness since childhood. Diagnosis of pulmonary alveolar microlithiasis was made on the basis of clinical features and laboratory findings.

SummaryPulmonary alveolar microlithiasis is a rare disease and only 32 cases have been reported in children under 12 years of age. The first report on Saudi children with this disorder and on affected cousins is presented, supporting the possible hypothesis of it being an autosomal recessive disorder. The importance of differentiating it from other conditions, particularly pulmonary tuberculosis, and the current approach to diagnosis and management are discussed.

Rosenthal et al. [1] recently reported a series of patients with pulmonary uptake of bone imaging tracer. All patients in that series had evidence of renal failure, and the majority had hypercalcemia as factors relating to their metastatic pulmonary calcification . We recently studied a patient with pulmonary alveolar microlithiasis without abnormal laboratory values who also demonstrated diffuse intense uptake of bone tracer in the lung.

Four siblings in a family with alveolar microlithiasis are reported. All the children were asymptomatic. Silent chest with alarming findings in the x-ray chest is characteristic of the disease.

The micronodular pulmonary radiographic pattern consists of homogeneous rounded densities of 1 mm or less in diameter without a reticular element. The differential diagnosis is limited to alveolar microlithiasis and a few other conditions, such as intravenous talc injection. Two patients with this image had very heavy exposure to hairspray and a pulmonary noncaseating granulomatous tissue reaction. Reports of 31 patients with pulmonary reactions to hairspray aerosols have been reviewed together with original radiographs in five cases. The micronodular pattern occurred in the eight. Aerosol sprays of several sorts were examined by electron microscopy and x-ray energy dispersive spectrometry. Although the pathogenesis of the pulmonary reaction has not been established, steroids and abstinence from further exposure to aerosols encourage its disappearance.

We describe the first known use of volume-controlled bronchopulmonary lavage in a case of alveolar microlithiasis. Although the procedure has often been discussed in the literature as theoretically useful in the therapy for this disease, in our case it showed no efficacy in clearing the alveolar spherules.