A Doença Crônica do Berílio (DCB) é uma doença inflamatória dos pulmões caracterizada pela formação de pequenos nódulos (granulomas) e que afeta o tecido de suporte pulmonar. Ela surge em pessoas que desenvolvem sensibilidade ao berílio (SBe), uma reação específica do sistema de defesa do corpo à exposição a essa substância no ambiente ou no trabalho. A sensibilidade ao berílio (SBe) costuma surgir antes da doença pulmonar, cujos sintomas podem incluir tosse seca persistente, cansaço, perda de peso, dor no peito e falta de ar que piora com o tempo.
Introdução
O que você precisa saber de cara
A Doença Crônica do Berílio (DCB) é uma doença inflamatória dos pulmões caracterizada pela formação de pequenos nódulos (granulomas) e que afeta o tecido de suporte pulmonar. Ela surge em pessoas que desenvolvem sensibilidade ao berílio (SBe), uma reação específica do sistema de defesa do corpo à exposição a essa substância no ambiente ou no trabalho. A sensibilidade ao berílio (SBe) costuma surgir antes da doença pulmonar, cujos sintomas podem incluir tosse seca persistente, cansaço, perda de peso, dor no peito e falta de ar que piora com o tempo.
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
+ 4 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 19 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: Not applicable.
Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC
Cell membraneEndoplasmic reticulum membraneGolgi apparatus, trans-Golgi network membraneEndosome membraneLysosome membrane
Variantes genéticas (ClinVar)
8 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
7 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 — Beriliose crônica
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
6 ensaios clínicos encontrados.
Publicações mais relevantes
New aspects of chronic beryllium disease.
Chronic beryllium disease (CBD) is a granulomatous lung disorder resulting from a cell-mediated immune response to beryllium exposure. Despite exposure regulations, new cases continue to emerge across both traditional and nontraditional occupational settings. In this review, we underscore ongoing diagnostic and preventive challenges, and strategies for screening and treatment of beryllium exposed patients. Recent updates to exposure standards and medical surveillance have broadened recognition of at-risk populations, including military personnel and construction workers. Advances in understanding the immunopathogenesis of CBD - particularly the central role of beryllium-specific CD4 + T cells and the strong genetic association with HLA-DPB1 alleles containing glutamic acid at position 69 (Glu69) - have provided critical insight into disease susceptibility and progression. However, gaps persist in access to testing, biomarker development, and understanding the natural history of sensitization and disease progression. Treatment remains centered on corticosteroids, with emerging but limited evidence for immunomodulatory and biologic therapies. Future directions include development of improved diagnostic biomarkers, refinement of screening protocols, and multicenter trials assessing steroid-sparing regimens. Coordinated translational and occupational research is essential to address persistent diagnostic uncertainty, reduce morbidity, and guide evidence-based management for affected individuals.
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.
Refining Beryllium Lymphocyte Proliferation Testing for Equitable Chronic Beryllium Disease vs Sarcoidosis Differentiation.
Additional diagnostic potential of transbronchial lung cryobiopsy in bronchoscopic assessment of sarcoidosis and chronic beryllium disease: a retrospective analysis of 321 patients.
Non-necrotising granulomas are the histological hallmark of sarcoidosis and chronic beryllium disease (CBD). Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA), transbronchial lung forceps biopsy (TBLB) and endobronchial biopsy (EBB) are often used as standard methods for obtaining suitable tissue. Transbronchial lung cryobiopsy (TBLC) is a novel biopsy technique well studied in different fibrosing lung diseases; however, data on its use in sarcoidosis are scarce. This study aimed to assess whether TBLC provides additional diagnostic value compared with standard diagnostic methods in detecting non-necrotising granulomas. We retrospectively analysed 321 patients diagnosed with sarcoidosis or CBD between 2010 and 2020 in a single tertiary care centre. Patients who underwent intrathoracic biopsy were analysed to assess the diagnostic yield, factors influencing diagnostic success, as well as complications related to each technique. Intrathoracic biopsy procedures were performed on 264 patients (EBUS-TBNA n=215, EBB n=61, TBLB n=120 and TBLC n=66). The diagnostic yields for single methods ranged from 56.3% (EBB) to 63.6% (TBLC) (p=0.7643). Combination of EBUS-TBNA with TBLC increased the diagnostic yield to 91.7%. Notably, TBLC provided a superior diagnostic yield compared with TBB in cases without radiologically detected parenchymal involvement. Complication rates were numerically higher following TBLC compared with TBLB (16.7% vs 9.2%, p=0.1561). The addition of TBLC significantly enhances the diagnostic yield in the workup of sarcoidosis and CBD, particularly in cases without radiologically detected parenchymal involvement. This underscores the added value of TBLC in improving diagnostic accuracy in challenging clinical scenarios.
Genome-wide association study and HLA genotyping for beryllium disease susceptibility in a European descent population.
Workplace exposure to beryllium can result in beryllium sensitization (BeS), a cell-mediated immune response that can progress to chronic beryllium disease (CBD), a granulomatous lung disease. DPB1-E69 is highly associated with CBD and BeS, although DRB1-E71 may also be a risk factor in the absence of DPB1-E69. This study 1) identified novel genetic variants associated with CBD/BeS using a genome-wide association study (GWAS) approach and 2) clarified the role of DRB1-E71 in conjunction with DPB1-E69. We performed GWAS and HLA analysis on 1626 subjects with BeS, CBD and beryllium exposure without disease. We found that rs1042140, the first base of the codon that encodes E69, was associated with CBD and BeS. We also found two single nucleotide polymorphisms (SNPs), rs56011217 and rs72636334, near SRIP1 on chromosome 4 associated with CBD and BeS independent of rs1042140. HLA alleles DRB1*04:04 (non E71) and DQB1*06:04 were significantly associated with CBD and BeS independent of rs1042140. We found both DPB1-E69 and DRB1-E71 carriers have a higher risk of CBD or BeS both independently and jointly, with DPB1-E69 status having higher impact than DRB1-E71 status. DRB1-E71 also increases the risk in subjects without DPB1-E69. Our study also implies that beyond HLA, SRIP1 should be investigated in chronic beryllium disease pathogenesis.
Publicações recentes
Beryllium Sulfate-Induced Cellular Senescence via the IL-6/STAT3 Pathway to Promote Pulmonary Fibrosis.
Refining Beryllium Lymphocyte Proliferation Testing for Equitable Chronic Beryllium Disease vs Sarcoidosis Differentiation.
New aspects of chronic beryllium disease.
Interstitial Lung Diseases Presenting as Small Nodules: Imaging Phenotypes.
Additional diagnostic potential of transbronchial lung cryobiopsy in bronchoscopic assessment of sarcoidosis and chronic beryllium disease: a retrospective analysis of 321 patients.
📚 EuropePMC188 artigos no totalmostrando 83
Refining Beryllium Lymphocyte Proliferation Testing for Equitable Chronic Beryllium Disease vs Sarcoidosis Differentiation.
ChestNew aspects of chronic beryllium disease.
Current opinion in allergy and clinical immunologyInterstitial Lung Diseases Presenting as Small Nodules: Imaging Phenotypes.
Seminars in roentgenologyAdditional diagnostic potential of transbronchial lung cryobiopsy in bronchoscopic assessment of sarcoidosis and chronic beryllium disease: a retrospective analysis of 321 patients.
BMJ open respiratory researchGenome-wide association study and HLA genotyping for beryllium disease susceptibility in a European descent population.
GeneBeryllium Lymphocyte Proliferation Test: Differential Diagnosis of Sarcoidosis and Chronic Beryllium Disease.
ChestLeukemia Inhibitory Factor via JAK-STAT Signaling Drives Beryllium Sulfate-Induced Epithelial-Mesenchymal Transition in 16HBE Cells.
Journal of applied toxicology : JATInterleukin-1 signaling and CD4+ T cells control B cell recruitment to the lungs in chronic beryllium disease.
Frontiers in immunologyOverview of multi-omics approaches for pulmonary sarcoidosis.
EC pulmonology and respiratory medicineSarcoidosis in Beryllium Exposed Workers: A Case-Case Study.
American journal of industrial medicineMultisystemic Beryllium Disease: An Exceptional Case Revealed by a Urinary Tract Granulomatosis.
International journal of molecular sciencesScoping review of exposure questionnaires and surveys in interstitial lung disease.
BMJ open respiratory researchHsa_circ_0004214 involved in the epithelial-mesenchymal transition induced by beryllium sulfate through modulating JAK-STAT signaling pathway.
Toxicology researchIn Response to: Re: TenHarmsel et al., Mortality Among Individuals Diagnosed With Chronic Beryllium Disease and Beryllium Sensitization.
Journal of occupational and environmental medicineRe: TenHarmsel et al., Mortality Among Individuals Diagnosed With Chronic Beryllium Disease and Beryllium Sensitization.
Journal of occupational and environmental medicineRecent progress in beryllium organometallic chemistry.
Chemical communications (Cambridge, England)Sarcoidosis in the Military May Be Chronic Beryllium Disease.
ChestMortality Among Individuals Diagnosed With Chronic Beryllium Disease and Beryllium Sensitization.
Journal of occupational and environmental medicineComparing [3H] thymidine LPT and CFSE assay to assess lymphocyte proliferation in beryllium-exposed sarcoidosis patients.
HeliyonOccupational interstitial lung diseases.
Journal of internal medicineOccupational Lung Diseases: Spectrum of Common Imaging Manifestations.
Korean journal of radiologyDifferential diagnosis of pulmonary sarcoidosis: a review.
Frontiers in medicinePathology and Mineralogy of the Pneumoconioses.
Seminars in respiratory and critical care medicineElemental analysis of contemporary dental materials regarding potential beryllium content.
Scientific reportsA comprehensive summary of disease variants implicated in metal allergy.
Journal of toxicology and environmental health. Part B, Critical reviewsMultiomic Signatures of Chronic Beryllium Disease Bronchoalveolar Lavage Cells Relate to T-Cell Function and Innate Immunity.
American journal of respiratory cell and molecular biologyBeryllium disease among construction trade workers at Department of Energy nuclear sites: A follow-up.
American journal of industrial medicineProtective role of tissue-resident Tregs in a murine model of beryllium-induced disease.
JCI insightAssessment of dermal absorption of beryllium and copper contained in temple tips of eyeglasses.
Toxicology lettersInnate and Adaptive Immunity in Noninfectious Granulomatous Lung Disease.
Journal of immunology (Baltimore, Md. : 1950)[Sarcoidosis and berylliosis].
Der InternistGiant Cell Interstitial Pneumonia In Native, Transplanted And Re-Transplanted Lungs 8 Years Apart Without Known Hard Metal Exposure.
International journal of surgical pathologyHLA-DPB1 E69 genotype and exposure in beryllium sensitisation and disease.
Occupational and environmental medicineGenomic biomarkers in chronic beryllium disease and sarcoidosis.
Respiratory medicineThe emerging role of inorganic elements as potential antigens in sarcoidosis.
Current opinion in pulmonary medicineEpigenetics and sarcoidosis.
European respiratory review : an official journal of the European Respiratory SocietyChronic Beryllium Disease Finding Requires Reexamination.
ChestInvolvement of Dendritic Cells and Th17 Cells in Induced Tertiary Lymphoid Structures in a Chronic Beryllium Disease Mouse Model.
Mediators of inflammationDetection of autoreactive CD4+ T cells by MHC class II multimers in HLA-linked human autoimmune diseases.
The Journal of clinical investigationAnalysis of single nucleotide polymorphisms in chronic beryllium disease.
Respiratory researchBeryllium-specific CD4+ T cells induced by chemokine neoantigens perpetuate inflammation.
The Journal of clinical investigationPneumoconiosis with a Sarcoid-Like Reaction Other than Beryllium Exposure: A Case Report and Literature Review.
Medicina (Kaunas, Lithuania)Health aspects of exposure to emissions from burning coal of high beryllium content: interactions with the immune system.
Central European journal of public healthA Cluster of Beryllium Sensitization Traced to the Presence of Beryllium in Concrete Dust.
Chest[Management of occupational health for adverse health effects of beryllium and its compounds in workplaces - Recent trends and issues in Japan].
Sangyo eiseigaku zasshi = Journal of occupational healthChronic Beryllium Disease: Update on a Moving Target.
ChestGranulomatous lung disease: clinical aspects.
Expert review of respiratory medicineBeryllium coordination chemistry and its implications on the understanding of metal induced immune responses.
Chemical communications (Cambridge, England)Age-associated B Cells Appear in Patients with Granulomatous Lung Diseases.
American journal of respiratory and critical care medicine[Diagnostic difficulties of chronic pulmonary berylliosis in France].
Revue des maladies respiratoiresAdaptive Immunity in Pulmonary Sarcoidosis and Chronic Beryllium Disease.
Frontiers in immunologyA role for TNF-α in alveolar macrophage damage-associated molecular pattern release.
JCI insightMolecular mechanism of Be2+-ion binding to HLA-DP2: tetrahedral coordination, conformational changes and multi-ion binding.
Physical chemistry chemical physics : PCCPLack of an Exposure Response and Interaction With HLA-DPβ1 and DRβ1 Polymorphisms in the Development of Beryllium Toxicity in a High Beryllium Exposure Cohort.
Journal of occupational and environmental medicineAssociations of Metrics of Peak Inhalation Exposure and Skin Exposure Indices With Beryllium Sensitization at a Beryllium Manufacturing Facility.
Annals of work exposures and healthSarcoidosis in a patient clinically diagnosed with silicosis; is silica associated sarcoidosis a new phenotype?
Respiratory medicine case reportsInterstitial pneumonia in a glassblower: think to chronic beryllium disease!
The Pan African medical journalNew insight in beryllium toxicity excluding exposure to beryllium-containing dust: accumulation patterns, target organs, and elimination.
Archives of toxicologyInterstitial Lung Diseases in Developing Countries.
Annals of global healthOccupational exposure to beryllium in French industries.
Journal of occupational and environmental hygienePolymorphism of FCGR3A gene in chronic beryllium disease.
Genes and immunityTLR9 and IL-1R1 Promote Mobilization of Pulmonary Dendritic Cells during Beryllium Sensitization.
Journal of immunology (Baltimore, Md. : 1950)DNA Methylation Changes in Lung Immune Cells Are Associated with Granulomatous Lung Disease.
American journal of respiratory cell and molecular biologyImmunologic Effects of Beryllium Exposure.
Annals of the American Thoracic SocietyClinical and laboratory factors contributing to uninterpretable beryllium lymphocyte proliferation tests (BeLPT).
American journal of industrial medicineEffect of inhaled corticosteroids on lung function in chronic beryllium disease.
Respiratory medicineClinical tool for disease phenotyping in granulomatous lung disease.
PloS one5-Aminosalicylic Acid Modulates the Immune Response in Chronic Beryllium Disease Subjects.
Lung[Differential Diagnosis of Mediastinal and Hilar Lymphadenopathy with Focus on Occupational Diseases].
Pneumologie (Stuttgart, Germany)High-Affinity Interactions of Beryllium(2+) with Phosphatidylserine Result in a Cross-Linking Effect Reducing Surface Recognition of the Lipid.
BiochemistryOccupational Exposure to Beryllium. Final rule.
Federal registerChronic Beryllium Disease: The Search for a Dose-Response.
Journal of occupational and environmental medicineA mortality study of beryllium workers.
Cancer medicineResearch to Practice Implications of High-Risk Genotypes for Beryllium Sensitization and Disease.
Journal of occupational and environmental medicineElemental analysis of occupational granulomatous lung disease by electron probe microanalyzer with wavelength dispersive spectrometer: Two case reports.
Respiratory medicine case reportsBeryllium-induced lung disease exhibits expression profiles similar to sarcoidosis.
The European respiratory journalIdentification of metal sensitization in sarcoid-like metal-exposed patients by the MELISA® lymphocyte proliferation test - a pilot study.
Journal of occupational medicine and toxicology (London, England)CpG promoter methylation status is not a prognostic indicator of gene expression in beryllium challenge.
Journal of immunotoxicologyMetal-specific CD4+ T-cell responses induced by beryllium exposure in HLA-DP2 transgenic mice.
Mucosal immunologyGene-environment interaction from international cohorts: impact on development and evolution of occupational and environmental lung and airway disease.
Seminars in respiratory and critical care medicineThe beryllium bronchoalveolar lavage lymphocyte proliferation test: indicator of beryllium sensitization, inflammation or both?
Inhalation toxicologyBeryllium increases the CD14(dim)CD16+ subset in the lung of chronic beryllium disease.
PloS oneBeryllium and other metal-induced lung disease.
Current opinion in pulmonary medicineAssociações
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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.
- New aspects of chronic beryllium disease.
- Interstitial Lung Diseases Presenting as Small Nodules: Imaging Phenotypes.
- Refining Beryllium Lymphocyte Proliferation Testing for Equitable Chronic Beryllium Disease vs Sarcoidosis Differentiation.
- Additional diagnostic potential of transbronchial lung cryobiopsy in bronchoscopic assessment of sarcoidosis and chronic beryllium disease: a retrospective analysis of 321 patients.
- Genome-wide association study and HLA genotyping for beryllium disease susceptibility in a European descent population.
- Beryllium Sulfate-Induced Cellular Senescence via the IL-6/STAT3 Pathway to Promote Pulmonary Fibrosis.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:133(Orphanet)
- MONDO:0015274(MONDO)
- GARD:867(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q684810(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
