A microlitíase alveolar pulmonar é uma doença na qual pequenos fragmentos (micrólitos) de fosfato de cálcio se acumulam gradualmente nos pequenos sacos aéreos (alvéolos) dos pulmões. Esses depósitos eventualmente causam danos generalizados aos alvéolos e ao tecido pulmonar circundante (doença pulmonar intersticial). Pessoas com esse distúrbio também podem desenvolver tosse persistente e dificuldade para respirar (dispneia), especialmente durante esforços físicos. Dor no peito que piora ao tossir, espirrar ou respirar fundo é outra característica comum. Pessoas com microlitíase alveolar pulmonar também podem desenvolver depósitos de fosfato de cálcio em outros órgãos e tecidos do corpo. Embora o curso da doença possa ser variável, muitos casos progridem lentamente para fibrose pulmonar, insuficiência respiratória ou cor pulmonale. A única terapia eficaz é o transplante pulmonar. Em alguns casos, a microlitíase alveolar pulmonar é causada por mutações no gene SLC34A2 e herdada de forma autossômica recessiva.
Introdução
O que você precisa saber de cara
A microlitíase alveolar pulmonar é uma doença na qual pequenos fragmentos (micrólitos) de fosfato de cálcio se acumulam gradualmente nos pequenos sacos aéreos (alvéolos) dos pulmões. Esses depósitos eventualmente causam danos generalizados aos alvéolos e ao tecido pulmonar circundante (doença pulmonar intersticial). Pessoas com esse distúrbio também podem desenvolver tosse persistente e dificuldade para respirar (dispneia), especialmente durante esforços físicos. Dor no peito que piora ao tossir, espirrar ou respirar fundo é outra característica comum. Pessoas com microlitíase alveolar pulmonar também podem desenvolver depósitos de fosfato de cálcio em outros órgãos e tecidos do corpo. Embora o curso da doença possa ser variável, muitos casos progridem lentamente para fibrose pulmonar, insuficiência respiratória ou cor pulmonale. A única terapia eficaz é o transplante pulmonar. Em alguns casos, a microlitíase alveolar pulmonar é causada por mutações no gene SLC34A2 e herdada de forma autossômica recessiva.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 23 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 50 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive, Not applicable.
Involved in actively transporting phosphate into cells via Na(+) cotransport
Apical cell membrane
Pulmonary alveolar microlithiasis
Rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. Most patients are asymptomatic for several years or even for decades and generally, the diagnosis is incidental to clinical investigations unrelated to the disease. Cases with early-onset or rapid progression are rare. A 'sandstorm-appearing' chest roentgenogram is a typical diagnostic finding. The onset of this potentially lethal disease varies from the neonatal period to old age and the disease follows a long-term, progressive course, resulting in a slow deterioration of lung functions. Pulmonary alveolar microlithiasis is a recessive monogenic disease with full penetrance.
Variantes genéticas (ClinVar)
58 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 23 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
4 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Microlitíase alveolar pulmonar
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Case Report: Novel compound heterozygous mutations in SLC34A2 gene: a case of pulmonary alveolar microlithiasis in a child.
Pulmonary alveolar microlithiasis (PAM), a rare disorder caused by SLC34A2 mutations, demonstrates clinical-radiological discordance. Pediatric cases face heightened diagnostic challenges; nonspecific presentations often result in misattribution to recurrent pneumonia or delayed diagnosis, especially in children ≤5 years. We present a case of a 3-year-old girl hospitalized for persistent cough (11-day duration) and intermittent fever (9-day history). Her recurrent productive cough had been misattributed to recurrent pneumonia in prior healthcare encounters. Diagnostic imaging revealed extensive calcifications in the left lower lobe on chest CT, accompanied by small clustered onion-like calcifications in bronchoalveolar lavage fluid(BALF). Sputum culture identified Haemophilus influenzae infection. Genetic analysis revealed novel compound heterozygous variants in SLC34A2: c.524-1G>C (IVS5) inherited maternally and c.910A>T (EX8) of paternal origin. The patient was diagnosed with PAM complicated by Haemophilus influenzae pneumonia. These compound heterozygous SLC34A2 variants represent previously unreported pathogenic mutations. We conclude that heightened attention should be directed toward detecting calcifications on mediastinal and bone windows during pediatric imaging examinations. Genetic analysis plays a pivotal role in diagnosing rare childhood disorders and may emerge as the primary diagnostic modality for PAM in pediatric populations.
Decoding the Invisible: A Diagnostic Odyssey of Pulmonary Alveolar Microlithiasis From the Desert State of India, Rajasthan.
Pulmonary alveolar microlithiasis (PAM) is a rare depositional disorder that carries an autosomal recessive pattern of inheritance. It may present at any age and is usually detected incidentally with an abnormal chest X-ray. Most patients are asymptomatic or have minimal symptoms at the time of detection of the disease. Here, we report a case of a 30-year-old female patient who presented with an illness duration of six months and complaints of dry cough, chest pain, and shortness of breath. She was started on anti-tubercular treatment on clinical grounds by her physician, but was not relieved of her symptoms. This case highlights the importance of having PAM in the differential diagnosis. This is, to the best of our knowledge, the first case of PAM from Rajasthan, a desert state of India, in spite of many institutional and monetary challenges.
Pulmonary Alveolar Microlithiasis, a Rare Cause of Progressive Restrictive Lung Disease.
Pulmonary alveolar microlithiasis is an autosomal recessive disease caused by a mutation in the SLC34A2 gene often misdiagnosed as pulmonary tuberculosis due to nonspecific clinical features and radiological overlap. Diagnosis is confirmed on a histopathological basis; however, no definitive treatment strategy exists. A 20-year-old female presented to us with progressive shortness of breath for 1 year. Physical examination revealed clubbing of fingers with diffuse lung crepitations. Imaging revealed a 'sandstorm-like' appearance and diffuse reticulonodular pattern. Transbronchial biopsy confirmed pulmonary alveolar microlithiasis. This case underscores the importance of identifying characteristic radiological and histopathological features of pulmonary alveolar microlithiasis to avoid misdiagnosis and timely management of the disease.
Interstitial Lung Diseases Presenting as Small Nodules: Imaging Phenotypes.
Interstitial lung disease (ILD) encompasses a diverse range of conditions that lead to inflammation and/or scarring of the lung interstitium, often affecting airspaces and resulting in a progressive decline in lung function. High-Resolution Computed Tomography (HRCT) is a crucial diagnostic tool for ILDs, and their characterization based on imaging. This article specifically focuses on ILD presentations characterized by small lung nodules on HRCT, defined as those measuring less than 10 mm. Small nodules on HRCT are analyzed based on size, distribution, borders, attenuation, associated findings, and temporal evolution to narrow diagnostic considerations. A key factor is the distribution pattern, which is placement within the secondary pulmonary lobule and axial interstitium. Based on their distribution pattern relative to the anatomical core of the lobule, small nodules are classified into 3 specific imaging phenotypes: perilymphatic, centrilobular, and random. Perilymphatic nodular phenotypes typically involve disease processes affecting the pulmonary lymphatics along the interlobular septa, pleura, fissures, and/or bronchovascular bundles. Common conditions include Sarcoidosis, Occupational lung diseases such as coal worker pneumoconiosis (CWP) and silicosis, Chronic beryllium disease, Granulomatous and Lymphocytic interstitial lung disease (GL-ILD), Pulmonary septal amyloidosis, Pulmonary alveolar microlithiasis, Diffuse Pulmonary Ossification. Centrilobular nodular phenotypes are centered on the core structures of the secondary pulmonary lobule, including bronchioles, pulmonary arterioles, and central lymphatic vessels. They can be nonbranching (solid or ground-glass attenuation) or branching, often appearing as a "tree-in-bud" morphology. Nonbranching centrilobular nodules are seen in conditions such as Nonfibrotic hypersensitivity pneumonitis (HP), Respiratory bronchiolitis (RB), Follicular bronchiolitis (FB), Lymphocytic interstitial pneumonitis (LIP), Metastatic pulmonary calcification (MPC), Pulmonary hemosiderosis, and Pulmonary Langerhans cell histiocytosis (LCH). Branching centrilobular nodules ("tree-in-bud") are typically not associated with ILDs and often indicate Infectious bronchiolitis, Aspiration and other disorders. Random pulmonary nodular phenotypes refer to nodules without a consistent relationship to the secondary lobule or other lung structures. While profuse perilymphatic nodules (e.g., in sarcoidosis and occupational lung diseases) can appear randomly distributed, true random patterns are characteristic of hematogenous infections or miliary metastases.
Pulmonary Alveolar Microlithiasis: Revisiting the First Lung Transplant Experience.
Publicações recentes
Spontaneous Pneumothorax Revealing Pulmonary Alveolar Microlithiasis: A Case Report.
Pulmonary Alveolar Microlithiasis in Pregnancy: A Case Report and Review of the Literature.
Case Report: Novel compound heterozygous mutations in SLC34A2 gene: a case of pulmonary alveolar microlithiasis in a child.
Decoding the Invisible: A Diagnostic Odyssey of Pulmonary Alveolar Microlithiasis From the Desert State of India, Rajasthan.
Pulmonary Alveolar Microlithiasis, a Rare Cause of Progressive Restrictive Lung Disease.
📚 EuropePMC425 artigos no totalmostrando 138
Case Report: Novel compound heterozygous mutations in SLC34A2 gene: a case of pulmonary alveolar microlithiasis in a child.
Frontiers in pediatricsDecoding the Invisible: A Diagnostic Odyssey of Pulmonary Alveolar Microlithiasis From the Desert State of India, Rajasthan.
CureusPulmonary Alveolar Microlithiasis, a Rare Cause of Progressive Restrictive Lung Disease.
Respirology case reportsPulmonary Alveolar Microlithiasis Coexisting With Rheumatic Heart Disease and Severe Pulmonary Hypertension: A Case Report.
CureusInterstitial Lung Diseases Presenting as Small Nodules: Imaging Phenotypes.
Seminars in roentgenologyNovel SLC34A2 mutation in a patient with pulmonary alveolar microlithiasis associated with cholelithiasis.
BMJ case reportsPulmonary Alveolar Microlithiasis: Revisiting the First Lung Transplant Experience.
Open respiratory archives[Sandstorm Lung - Pulmonary Alveolar Microlithiasis].
RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der NuklearmedizinPulmonary Alveolar Microlithiasis: A Review of a Rare Disease Through Rarely Discussed Perspectives.
Seminars in respiratory and critical care medicinePulmonary Alveolar Microlithiasis: A Disorder of Pulmonary Phosphate Homeostasis.
Clinics in chest medicineSpontaneous Pneumothorax as First Presentation of Pulmonary Alveolar Microlithiasis.
American journal of respiratory and critical care medicineDifferences in genetic characteristics between Chinese and non-Chinese patients with pulmonary alveolar microlithiasis-case series and a systematic review.
Therapeutic advances in respiratory diseasePulmonary Alveolar Microlithiasis: Case Report.
Open respiratory archivesThe necessity of geneticist and pulmonologist collaboration in the treatment of monogenic interstitial lung diseases in adults.
Breathe (Sheffield, England)Pulmonary alveolar microlithiasis: A case report and brief review of literature.
Caspian journal of internal medicinePulmonary Calcification and Ossification: Pathogenesis, CT Appearance, and Specific Disorders.
Radiographics : a review publication of the Radiological Society of North America, IncPulmonary alveolar microlithiasis with minimal symptoms and near-complete whiteout on chest imaging.
Radiology case reportsA Novel Variant in Pulmonary Alveolar Microlithiasis With Disseminated Pseudomonas Infection.
PediatricsClassic radiological signs in pulmonary alveolar microlithiasis. Radiopathological correlation with explanted lungs.
RadiologiaLung Function Decline in Pulmonary Alveolar Microlithiasis.
CureusPulmonary Alveolar Microlithiasis in a Young Man Undergoing Lung Transplantation: A Case Report.
International journal of surgical pathologyPulmonary alveolar microlithiasis combined with gastric mucosal calcification: a case report.
Frontiers in medicineSuccessful bilateral lung transplantation in pulmonary alveolar microlithiasis: A case report and review of literature.
The clinical respiratory journalPulmonary Alveolar Microlithiasis in a Patient Requiring Allotransplant.
Mayo Clinic proceedingsExploring the silent storm.
Qatar medical journalOutcome of lung transplantation in patients with pulmonary alveolar microlithiasis in the era of COVID-19 infection.
Journal of surgical case reportsPulmonary Alveolar Microlithiasis in a Middle-Aged Man Presenting With Respiratory Failure: A Case Report and Review of the Literature.
CureusAlveolar Microlithiasis with Mild Clinical Symptoms But Severe Imaging Findings: A Case Report.
Clinical medicine insights. Case reportsSevere pulmonary hypertension in pulmonary alveolar microlithiasis: A comprehensive literature review.
Current problems in cardiologyComparison of lung ultrasonography and magnetic resonance imaging versus computed tomography in pulmonary alveolar microlithiasis.
Pediatric pulmonologyA novel compound heterozygous mutation in the SLC34A2 gene causes pulmonary alveolar microlithiasis.
QJM : monthly journal of the Association of PhysiciansDiffuse hyperdense micronodular airspace opacities in pulmonary alveolar microlithiasis.
ThoraxLosing vigilance in diagnosing pulmonary alveolar microlithiasis: A report on four cases.
Journal of clinical imaging sciencePulmonary alveolar microlithiasis-a rare lung disease-diagnosed by transbronchial cryobiopsy.
Lancet (London, England)Metastatic pulmonary calcification on bone scintigraphy of a patient with lupus nephritis and end-stage renal disease.
Radiology case reportsPulmonary alveolar microlithiasis: a rare case report from Syria.
Annals of medicine and surgery (2012)Two novel gene mutations identified in a child with pulmonary alveolar microlithiasis complicated with bronchitis obliterans: A case report and literature review.
Clinical case reports[Pulmonary alveolar microlithiasis: A report on two familial cases in Morocco].
Revue des maladies respiratoiresBronchoalveolar Lavage in Diagnostic Evaluation of Pulmonary Diseases- An Institutional Experience.
Journal of cytologyNew insights in the genetic variant spectrum of SLC34A2 in pulmonary alveolar microlithiasis; a systematic review.
Orphanet journal of rare diseasesIs SLC34A2 Associated With Concomitant Calcium Metabolism Disorder in Pulmonary Alveolar Microlithiasis (PAM)?
Archivos de bronconeumologiaA case report of pulmonary alveolar microlithiasis with pulmonary tuberculosis.
Lung India : official organ of Indian Chest SocietyInsights into pulmonary phosphate homeostasis and osteoclastogenesis emerge from the study of pulmonary alveolar microlithiasis.
Nature communicationsThe world of rare interstitial lung diseases.
European respiratory review : an official journal of the European Respiratory SocietyDiffuse pulmonary ossification: A case report unveiling clinical and histopathological challenges.
Respiratory medicine case reportsA Case Report of Pulmonary Alveolar Microlithiasis: Focus on Radiologic Findings.
The American journal of case reportsPharmacology of Mammalian Na+-Dependent Transporters of Inorganic Phosphate.
Handbook of experimental pharmacologyDiagnostic Images of Pulmonary Alveolar Microlithiasis: A Rare, Autosomal Recessive Disorder.
European journal of case reports in internal medicinePulmonary Alveolar Microlithiasis in a Patient with Ellis-van Creveld Syndrome.
American journal of respiratory and critical care medicinePrecalcific phase of pulmonary alveolar microlithiasis.
BMJ case reportsA Rare Case of Pulmonary Alveolar Microlithiasis with Diffuse Lung Uptake on Bone Scintigraphy.
Molecular imaging and radionuclide therapy[Pulmonary alveolar microlithiasis caused by SLC34A2 gene compound heterozygous variations in a child].
Zhonghua er ke za zhi = Chinese journal of pediatricsA case of sporadic pulmonary alveolar microlithiasis.
The American journal of the medical sciencesA Rare Case of Pulmonary Alveolar Microlithiasis.
CureusImpaired phosphate transport in SLC34A2 variants in patients with pulmonary alveolar microlithiasis.
Human genomicsNovel SLC12A1 mutations cause Bartter syndrome in two patients with different prognoses.
Clinica chimica acta; international journal of clinical chemistryExuberant Paraseptal Emphysema Associated With Pulmonary Alveolar Microlithiasis: 12 Years of Evolution.
Archivos de bronconeumologiaA novel genetic variant of pulmonary alveolar microlithiasis.
Lung India : official organ of Indian Chest SocietyPulmonary Alveolar Microlithiasis: A novel patient and brief review of the literature.
Klinische PadiatriePulmonary Alveolar Microlithiasis - A Review.
The Yale journal of biology and medicinePULMONARY ALVEOLAR MICROLITHIASIS. DISCREPANCIES BETWEEN RADIOLOGICAL FINDINGS AND CLINICAL PATTERN- CASE STUDY.
Wiadomosci lekarskie (Warsaw, Poland : 1960)Spontaneous pneumomediastinum and subcutaneous emphysema secondary to pulmonary alveolar microlithiasis.
Tuberkuloz ve toraksDiffuse pulmonary calcifications: A case series and review of literature.
Respirology case reportsPulmonary Alveolar Microlithiasis and Rheumatoid Arthritis: A Case Report and Review of the Literature.
Case reports in rheumatologyPulmonary alveolar microlithiasis: Blizzard of lung.
Monaldi archives for chest disease = Archivio Monaldi per le malattie del toraceAnaesthetic challenges in pulmonary alveolar microlithiasis - a rare disease treated with bilateral lung transplantation, first case from India.
Annals of cardiac anaesthesiaPulmonary alveolar microlithiasis and pulmonary tuberculosis.
QJM : monthly journal of the Association of PhysiciansPulmonary Alveolar Microlithiasis: A Unique Case of Familial PAM Complicated by Transplant Rejection.
Case reports in pathologyPulmonary Alveolar Microlithiasis Complicated by Tuberculosis.
The New England journal of medicinePulmonary alveolar microlithiasis.
QJM : monthly journal of the Association of PhysiciansPulmonary alveolar microlithiasis presenting with progressive dyspnoea.
British journal of hospital medicine (London, England : 2005)Clinicopathological and imaging features of pulmonary alveolar microlithiasis in a dog - a case report.
BMC veterinary researchPulmonary alveolar microlithiasis: no longer in the stone age.
ERJ open researchA 35-Year-Old Woman With Progressive Dyspnea and Cough.
ChestSubtle Clinical Presentation of Pulmonary Alveolar Microlithiasis.
Indian pediatricsIntractable diffuse pulmonary diseases: Manual for diagnosis and treatment.
Respiratory investigationTricuspid valve calcification in familial pulmonary alveolar microlithiasis: A case report.
Annals of medicine and surgery (2012)Pulmonary Alveolar Microlithiasis: An Isolated Case in a Hispanic Male.
Case reports in pathologyPulmonary Alveolar Microlithiasis: A Case Report.
Oman medical journalPulmonary Alveolar Microlithiasis: a Case Report in King Hussein Medical Center (KHMC), Amman, Jordan.
Medical archives (Sarajevo, Bosnia and Herzegovina)First report of pulmonary alveolar microlithiasis diagnosed by cryobiopsy.
Lung India : official organ of Indian Chest SocietyPulmonary alveolar microlithiasis: Incidental finding - should we Ignore?
Autopsy & case reportsImages of the month 1: Cough before the storm: A case of pulmonary alveolar microlithiasis.
Clinical medicine (London, England)Pulmonary alveolar microlithiasis: A report of two unique cases.
Respiratory medicine case reportsEight novel variants in the SLC34A2 gene in pulmonary alveolar microlithiasis.
The European respiratory journalSingle-lung transplantation for pulmonary alveolar microlithiasis: A case report.
World journal of clinical casesPulmonary Alveolar Microlithiasis in Children Less than 5 Years of Age.
The Journal of pediatricsPulmonary alveolar microlithiasis and interstitial pneumonitis: a case report of the west of Iran.
BioMedicineChildhood diffuse parenchymal lung diseases: We need a new classification.
The clinical respiratory journalAn "Orphan" in search of a treatment: Pulmonary alveolar microlithiasis.
Lung India : official organ of Indian Chest SocietyPulmonary alveolar microlithiasis: A rare disease treated with lung transplantation, first case from India.
Lung India : official organ of Indian Chest SocietyA 63-Year-Old Woman With Pulmonary Micronodules and Chronic Cough.
ChestPulmonary Hypertension and Polycythemia Secondary to Pulmonary Alveolar Microlithiasis Treated with Sequential Bilateral Lung Transplant: A Case Study and Literature Review.
The American journal of case reportsRadiographic characteristics of alveolar microlithiasis and pulmonary ossification following chronic corticosteroid therapy in a dog.
Veterinary radiology & ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology AssociationPulmonary alveolar microlithiasis: often misdiagnosed in children.
BMJ case reportsCalcium-solubilizing sodium thiosulfate failed to improve pulmonary alveolar microlithiasis: Evaluation of calcium content with CT scan.
Respiratory medicine and researchPulmonary alveolar microlithiasis diagnosed with radiography, CT, and bone scintigraphy.
Radiology case reportsCase series of Pulmonary Alveolar Microlithiasis from India.
BMJ case reportsClinical aspects of the phosphate transporters NaPi-IIa and NaPi-IIb: mutations and disease associations.
Pflugers Archiv : European journal of physiologyNovel deletion of SLC34A2 in Chinese patients of PAM shares mutation hot spot with fusion gene SLC34A2-ROS1 in lung cancer.
Journal of geneticsPulmonary Alveolar Microlithiasis: A commonly misdiagnosed rare entity.
Sultan Qaboos University medical journalProgressive Sandstorm Lung in Pulmonary Alveolar Microlithiasis.
The Annals of thoracic surgery[Alveolar microlithiasis: about a new case].
The Pan African medical journalUltrasonography and computed tomography findings in pulmonary alveolar microlithiasis.
RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der NuklearmedizinPneumothorax secondary to pulmonary alveolar microlithiasis.
Clinical case reportsPulmonary alveolar microlithiasis: A case report and review of the literature.
Experimental and therapeutic medicineA Case of Pulmonary Alveolar Microlithiasis Diagnosed by Transbronchial Biopsy.
Turkish thoracic journalEffect of SLC34A2 gene mutation on extracellular phosphorus transport in PAM alveolar epithelial cells.
Experimental and therapeutic medicineAlveolar Microlithiasis And Its Distinctive Clinical And Radiological Disassociation.
Archivos de bronconeumologiaCalcified Curschmann's spirals and microliths in sputum smears from a case of pulmonary alveolar microlithiasis.
Diagnostic cytopathologyAn unusual late onset of pulmonary alveolar microlithiasis: A case report and literature review.
Respiratory medicine case reportsCalcified pulmonary consolidations in pulmonary alveolar microlithiasis: Uncommon computed tomographic appearance of a rare disease.
Lung India : official organ of Indian Chest SocietyChest CT Signs in Pulmonary Disease: A Pictorial Review.
ChestA novel SLC34A2 mutation in a patient with pulmonary alveolar microlithiasis.
Human genome variationPulmonary Alveolar Microlithiasis "Stone Lungs": A Case of Clinico-Radiological Dissociation.
CureusPulmonary microlithiasis - A case report.
Respiratory medicine case reportsPulmonary Alveolar Microlithiasis: AIRP Best Cases in Radiologic-Pathologic Correlation.
Radiographics : a review publication of the Radiological Society of North America, IncDiagnosis and treatment of pulmonary alveolar microlithiasis.
Pediatrics international : official journal of the Japan Pediatric SocietyPulmonary melanoma and "crazy paving" patterns in chest images: a case report and literature review.
BMC cancerPulmonary Alveolar Microlithiasis - Clinico-Radiological dissociation - A case report with Radiological review.
Journal of radiology case reportsA case of pulmonary alveolar microlithiasis associated with a homozygous 195 kb deletion encompassing the entire SLC34A2 gene.
Clinical case reportsPulmonary alveolar microlithiasis with finger clubbing: A case report and literature review.
Experimental and therapeutic medicineA rare indication for lung transplantation - pulmonary alveolar microlithiasis: institutional experience of five consecutive cases.
Clinical transplantationThe sodium-phosphate co-transporter SLC34A2, and pulmonary alveolar microlithiasis: Presentation of an inbred family and a novel truncating mutation in exon 3.
Respiratory medicine case reportsSpectrum of Clinical Presentation of Pulmonary Alveolar Microlithiasis: Case Series from North India.
The Indian journal of chest diseases & allied sciencesPulmonary alveolar microlithiasis: review of the 1022 cases reported worldwide.
European respiratory review : an official journal of the European Respiratory SocietyThe Role of Sodium-Dependent Phosphate Transporter in Phosphate Homeostasis.
Journal of nutritional science and vitaminologyChest ultrasound findings in pulmonary alveolar microlithiasis.
Journal of medical ultrasonics (2001)Modeling pulmonary alveolar microlithiasis by epithelial deletion of the Npt2b sodium phosphate cotransporter reveals putative biomarkers and strategies for treatment.
Science translational medicineDiagnosis of pulmonary alveolar microlithiasis.
Radiologia brasileiraCan chest high-resolution computed tomography findings diagnose pulmonary alveolar microlithiasis?
Radiologia brasileiraDiffuse pulmonary uptake of bone-seeking radiotracer in bone scintigraphy of a rare case of pulmonary alveolar microlithiasis.
Indian journal of nuclear medicine : IJNM : the official journal of the Society of Nuclear Medicine, IndiaPulmonary alveolar microlithiasis: an interesting case report with systematic review of Indian literature.
Frontiers of medicineMicrolithiasis of Seminal Vesicles and Severe Oligoasthenospermia in Pulmonary Alveolar Microlithiasis (PAM): Report of An Unusual Sporadic Case.
International journal of fertility & sterilityPulmonary calcifications: a pictorial review and approach to formulating a differential diagnosis.
Current problems in diagnostic radiologyDiseases of pulmonary surfactant homeostasis.
Annual review of pathologySLC34A2 gene compound heterozygous mutation identification in a patient with pulmonary alveolar microlithiasis and computational 3D protein structure prediction.
Meta geneFirst presentation of a case of pulmonary alveolar microlithiasis with spontaneous pneumothorax.
Oman medical journalAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Case Report: Novel compound heterozygous mutations in SLC34A2 gene: a case of pulmonary alveolar microlithiasis in a child.
- Decoding the Invisible: A Diagnostic Odyssey of Pulmonary Alveolar Microlithiasis From the Desert State of India, Rajasthan.
- Pulmonary Alveolar Microlithiasis, a Rare Cause of Progressive Restrictive Lung Disease.
- Interstitial Lung Diseases Presenting as Small Nodules: Imaging Phenotypes.
- Pulmonary Alveolar Microlithiasis: Revisiting the First Lung Transplant Experience.
- Spontaneous Pneumothorax Revealing Pulmonary Alveolar Microlithiasis: A Case Report.
- Pulmonary Alveolar Microlithiasis in Pregnancy: A Case Report and Review of the Literature.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:60025(Orphanet)
- OMIM OMIM:265100(OMIM)
- MONDO:0009928(MONDO)
- GARD:11894(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q5560415(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
