A bronquiectasia idiopática (IB) é uma doença pulmonar progressiva caracterizada por dilatação crônica dos brônquios e destruição das paredes brônquicas na ausência de qualquer causa subjacente (como doença pós-infecciosa, aspiração, imunodeficiência, anomalias congênitas e anomalias ciliares).
Introdução
O que você precisa saber de cara
A bronquiectasia idiopática (IB) é uma doença pulmonar progressiva caracterizada por dilatação crônica dos brônquios e destruição das paredes brônquicas na ausência de qualquer causa subjacente (como doença pós-infecciosa, aspiração, imunodeficiência, anomalias congênitas e anomalias ciliares).
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 10 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 24 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
4 genes identificados com associação a esta condição. Padrão de herança: Not applicable.
This is one of the three pore-forming subunits of the heterotrimeric epithelial sodium channel (ENaC), a critical regulator of sodium balance and fluid homeostasis (PubMed:30251954, PubMed:32729833, PubMed:8023962, PubMed:8278374, PubMed:9792722). ENaC operates in epithelial tissues, where it mediates the electrodiffusion of sodium ions from extracellular fluid through the apical membrane of cells, with water following osmotically (PubMed:24124190, PubMed:28710092, PubMed:8278374). It plays a ke
Apical cell membraneCell projection, ciliumCytoplasmic granuleCytoplasmCytoplasmic vesicle, secretory vesicle, acrosomeCell projection, cilium, flagellum
Pseudohypoaldosteronism 1B1, autosomal recessive
A form of pseudohypoaldosteronism type 1, a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. The disorder affects multiple organs, and is characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and weight loss.
This is one of the three pore-forming subunits of the heterotrimeric epithelial sodium channel (ENaC), a critical regulator of sodium balance and fluid homeostasis (PubMed:30251954, PubMed:32729833, PubMed:7550319, PubMed:7762608, PubMed:9792722). ENaC operates in epithelial tissues, where it mediates the electrodiffusion of sodium ions from extracellular fluid through the apical membrane of cells, with water following osmotically (PubMed:24124190). It plays a key role in maintaining sodium home
Apical cell membrane
Liddle syndrome 2
A form of Liddle syndrome, an autosomal dominant disorder characterized by early onset of hypertension, hypokalemic alkalosis, and suppression of plasma renin activity and aldosterone secretion.
Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis (PubMed:26823428). Mediates the transport of chloride ions across the cell membrane (PubMed:10792060, PubMed:11524016, PubMed:11707463, PubMed:12519745, PubMed:12529365, PubMed:12588899, PubMed:12727866, PubMed:15010471, PubMed:17036051, PubMed:1712898, PubMed:17182731, PubMed:19398555, PubMed:19621064, PubMed:22178883, PubMed:25330774, PubMed:26846474, PubMed:2808770
Apical cell membraneEarly endosome membraneCell membraneRecycling endosome membraneEndoplasmic reticulum membraneNucleus
Cystic fibrosis
A common generalized disorder of the exocrine glands which impairs clearance of secretions in a variety of organs. It is characterized by the triad of chronic bronchopulmonary disease (with recurrent respiratory infections), pancreatic insufficiency (which leads to malabsorption and growth retardation) and elevated sweat electrolytes. It is the most common genetic disease in Caucasians, with a prevalence of about 1 in 2'000 live births. Inheritance is autosomal recessive.
This is one of the three pore-forming subunits of the heterotrimeric epithelial sodium channel (ENaC), a critical regulator of sodium balance and fluid homeostasis (PubMed:30251954, PubMed:32729833, PubMed:7762608, PubMed:9792722). ENaC operates in epithelial tissues, where it mediates the electrodiffusion of sodium ions from extracellular fluid through the apical membrane of cells, with water following osmotically (PubMed:24124190). It plays a key role in maintaining sodium homeostasis through
Apical cell membraneCytoplasmic vesicle membrane
Pseudohypoaldosteronism 1B2, autosomal recessive
A form of pseudohypoaldosteronism type 1, a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. The disorder affects multiple organs, and is characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and weight loss.
Variantes genéticas (ClinVar)
2,336 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 1 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
13 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 — Bronquiectasia idiopática
Selecione um estado ou use sua localização para ver resultados.
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
Characteristics of patients with idiopathic bronchiectasis in comparison to post-infectious bronchiectasis in South Korea.
Bronchiectasis has a complex, heterogeneous pathogenesis with various aetiologies, with idiopathic bronchiectasis being the majority. This study aimed to investigate the characteristics of patients with idiopathic bronchiectasis, in comparison with post-infectious bronchiectasis. We analyzed idiopathic and post-infectious (including post-TB) bronchiectasis patients from the Korean Multicenter Bronchiectasis Audit and Research Collaboration (KMBARC) registry, a prospective cohort study (1). Among the 866 patients enrolled in the study, 346 (40.0%) patients were determined as idiopathic, 363 (41.9%) patients as post-infectious. The idiopathic group exhibited shorter disease duration of bronchiectasis, higher BMI, lower prevalence of COPD, higher prevalence of rhinosinusitis, predominance of lower lobe distribution in bronchiectasis, lower usage of regular respiratory treatment, better pulmonary function, and statistically lower bronchiectasis severity index (BSI) compared to post-infectious bronchiectasis. Multivariable logistic regression analysis was performed for the variables of gender, age, body mass index, the history of asthma, COPD, rhinosinusitis, rheumatoid arthritis and gastroesophageal reflux disease (GERD), and smoking status. A higher body mass index (odds ratio, 1.09; 95% confidence interval, 1.04-1.15) and the history of rhinosinusitis (3.10; 1.57-6.14) were associated with idiopathic bronchiectasis. Conversely, the history of COPD was associated with post-infectious bronchiectasis (0.57; 0.41-0.80). The characteristics of patients with idiopathic bronchiectasis might be a higher body mass index (BMI) and the history of rhinosinusitis in comparison with post-infectious bronchiectasis, potentially serving as exploratory clues to underlying systemic or non-pulmonary factors. Further research is needed to clarify their clinical significance.
CFTR activity in nasal potential difference of adults with idiopathic bronchiectasis.
Phenotyping Bronchiectasis Frequent Exacerbator: A Single Centre Retrospective Cluster Analysis.
Background: Bronchiectasis is a chronic respiratory condition characterized by permanent bronchial dilation, recurrent infections, and progressive lung damage. A subset of patients, known as frequent exacerbators, experience multiple exacerbations annually, leading to accelerated lung function decline, hospitalizations, and reduced quality of life. The aim of this study is to identify distinct phenotypes and treatable traits in bronchiectasis frequent exacerbators, since it could be crucial for optimizing patient management. Research question: Could clinically distinct phenotypes and treatable traits be identified among frequent exacerbators with bronchiectasis to guide personalized management strategies? Methods: We analysed a cohort of 56 bronchiectasis frequent exacerbator patients using 21 clinically relevant variables, including pulmonary function tests, radiological patterns, and microbiological data. Hierarchical clustering and k-means algorithms were applied to identify subgroups. Key outcomes included cluster-specific characteristics, treatable traits, and their implications for management. Results: Four distinct clusters were identified: 1. Mild, idiopathic bronchiectasis (Cluster 1): Predominantly mild disease (FACED), idiopathic etiology (93.3%), and cylindrical bronchiectasis with moderate obstruction (60%). 2. Rheumatological and NTM-associated bronchiectasis (Cluster 2): Patients with systemic inflammatory diseases (50%) and NTMever (50%) but minimal infections by Pseudomonas aeruginosa. 3. Mild, post-infective bronchiectasis (Cluster 3): Exclusively mild disease, mixed idiopathic and post-infective etiologies, and preserved lung function. 4. Severe, chronic infection phenotype (Cluster 4): Severe disease with high colonization rates of Pseudomonas aeruginosa (71.4%), advanced structural damage (57.1% varicose, 50% cystic bronchiectasis), and frequent exacerbations. Interpretation: This analysis highlights the heterogeneity of bronchiectasis and its frequent exacerbator phenotype. The treatable traits framework underscores the importance of aggressive infection control and management of airway inflammation in severe cases, while milder clusters may benefit from preventive strategies. These findings support the integration of precision medicine in bronchiectasis care, focusing on phenotype-specific interventions to improve outcomes.
Acrophialophora jodhpurensis and Nocardia in idiopathic bronchiectasis: Colonizers or culprits?'.
Multi-drug resistant Pseudomonas aeruginosa isolation is an independent risk factor for recurrent hemoptysis after bronchial artery embolization in patients with idiopathic bronchiectasis: a retrospective cohort study.
Currently, there is a lack of research on multi-drug resistant Pseudomonas aeruginosa (MDR-PA) isolation in bronchiectasis-related hemoptysis. The aim of this study to analyze the risk factors for recurrent hemoptysis following bronchial artery embolization (BAE) and compare the recurrent hemoptysis-free rates between MDR-PA, non-MDR-PA, and non-PA isolation. A retrospective study was performed of patients diagnosed with idiopathic bronchiectasis-related recurrent hemoptysis who underwent BAE at an university-affiliated hospital. Patients were categorized based on PA susceptibility tests into non-PA, non-MDR-PA, and MDR-PA groups. Univariate and multivariate Cox regression were conducted to identify independent risk factors for recurrent hemoptysis. The Kaplan-Meier curves was conducted to compare recurrent hemoptysis-free rates after BAE for non-PA, non-MDR-PA, and MDR-PA. A total of 432 patients were included. 181 (41.90%) patients experienced recurrent hemoptysis during a median follow-up period of 25 months. MDR-PA isolation (adjusted hazard ratio (aHR) 2.120; 95% confidence interval (CI) [1.249, 3.597], p = 0.005) was identified as an independent risk factor for recurrent hemoptysis. Antibiotic treatment (aHR 0.666; 95% CI [0.476, 0.932], p = 0.018) reduced the risk of recurrent hemoptysis. The cumulative recurrent hemoptysis-free rates for non-PA, non-MDR-PA, and MDR-PA were as follows: at 3 months, 88.96%, 88.24%, and 75.86%, respectively; at 1 year, 73.13%, 69.10%, and 51.72%; and at 3 years, 61.91%, 51.69%, and 41.10% (p = 0.034). MDR-PA isolation was an independent risk factor of recurrent hemoptysis post-BAE. Reducing the occurrence of MDR-PA may effectively decrease the recurrence rates of hemoptysis.
Publicações recentes
Alpha-1 Antitrypsin Deficiency Beyond COPD and Emphysema: A Narrative Review.
CFTR activity in nasal potential difference of adults with idiopathic bronchiectasis.
Characteristics of Patients with Idiopathic Bronchiectasis in Comparison to Post-infectious Bronchiectasis in South Korea.
Phenotyping Bronchiectasis Frequent Exacerbator: A Single Centre Retrospective Cluster Analysis.
Acrophialophora jodhpurensis and Nocardia in idiopathic bronchiectasis: Colonizers or culprits?'.
📚 EuropePMC32 artigos no totalmostrando 40
CFTR activity in nasal potential difference of adults with idiopathic bronchiectasis.
Respiratory researchCharacteristics of patients with idiopathic bronchiectasis in comparison to post-infectious bronchiectasis in South Korea.
Tuberculosis and respiratory diseasesPhenotyping Bronchiectasis Frequent Exacerbator: A Single Centre Retrospective Cluster Analysis.
BiomedicinesAcrophialophora jodhpurensis and Nocardia in idiopathic bronchiectasis: Colonizers or culprits?'.
Indian journal of medical microbiologyMulti-drug resistant Pseudomonas aeruginosa isolation is an independent risk factor for recurrent hemoptysis after bronchial artery embolization in patients with idiopathic bronchiectasis: a retrospective cohort study.
Respiratory researchDestroyed lung contributes to the recurrence of hemoptysis after bronchial artery embolization in patients with post-tuberculosis bronchiectasis.
Journal of infection and public healthDeciphering Idiopathic Bronchiectasis One Gene at a Time.
American journal of respiratory and critical care medicineAsymptomatic Dysphagia and Aspiration in Patients with Idiopathic Bronchiectasis.
LungBronchiectasis in renal transplant patients: a cross-sectional study.
European journal of medical researchIdiopathic bronchiectasis. What are we talking about?
Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e TisilogiaUsefulness of High-resolution Computed Tomography for Macrolide Therapy of Idiopathic Bronchiectasis.
The open respiratory medicine journalPseudomonas aeruginosa isolation is an important predictor for recurrent hemoptysis after bronchial artery embolization in patients with idiopathic bronchiectasis: a multicenter cohort study.
Respiratory researchPrevalence of chronic rhinosinusitis and its relating factors in patients with bronchiectasis: findings from KMBARC registry.
The Korean journal of internal medicineLeveraging Open Electronic Health Record Data and Environmental Exposures Data to Derive Insights Into Rare Pulmonary Disease.
Frontiers in artificial intelligenceHeterogeneity of non-cystic-fibrosis bronchiectasis in multiethnic Singapore: A prospective cohort study at a tertiary pulmonology centre.
Annals of the Academy of Medicine, SingaporeCommon Variable Immunodeficiency and Other Immunodeficiency Syndromes in Bronchiectasis.
Seminars in respiratory and critical care medicineOutcomes of bronchial artery embolization for the management of hemoptysis.
La Tunisie medicaleBronchial artery embolization: A gratifying life-saving procedure.
The Indian journal of tuberculosisPerformance of Multidimensional Severity Scoring Systems in Patients with Post-Tuberculosis Bronchiectasis.
International journal of chronic obstructive pulmonary diseaseCo-infection of SARS-CoV-2 and Bordetella bronchiseptica in a young man with idiopathic non-cystic bronchiectasis and vitamin D3 deficiency.
Respiratory medicine case reportsCharacterization of the severity of dyspnea in patients with bronchiectasis: correlation with clinical, functional, and tomographic aspects.
Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e TisilogiaNoncystic Fibrosis Bronchiectasis: Evaluation of an Extensive Diagnostic Protocol in Determining Pediatric Lung Disease Etiology.
Pediatric allergy, immunology, and pulmonologyImpact of mannose-binding lectin 2 gene polymorphisms on disease severity in noncystic fibrosis bronchiectasis in children.
Pediatric pulmonologyNew-onset asthma in a bilateral lung transplant patient.
BMJ case reports[Correlation between chest CT features and clinical characteristics of patients with bronchiectasis].
Zhonghua yi xue za zhiAchromobacter xylosoxidans in idiopathic cystic bronchiectasis.
BMJ case reportsPathophysiology and Genetics of Bronchiectasis Unrelated to Cystic Fibrosis.
LungSurvival of pathogenic Mycobacterium abscessus subsp. massiliense in Acanthamoeba castellanii.
Research in microbiologyEtiology of Bronchiectasis in a Cohort of 2047 Patients. An Analysis of the Spanish Historical Bronchiectasis Registry.
Archivos de bronconeumologiaEradication of Mycobacterium abscessus Pulmonary Infection in a Child With Idiopathic Bronchiectasis.
Global pediatric healthBronchiectasis in yellow nail syndrome.
Respirology (Carlton, Vic.)Enlarged Dural Sac in Idiopathic Bronchiectasis Implicates Heritable Connective Tissue Gene Variants.
Annals of the American Thoracic SocietyThe Multiple Faces of Non-Cystic Fibrosis Bronchiectasis. A Cluster Analysis Approach.
Annals of the American Thoracic SocietyAllergic bronchopulmonary aspergillosis complicating Swyer-James-Macleod's syndrome: case report and review of literature.
European annals of allergy and clinical immunologyUnsupervised learning technique identifies bronchiectasis phenotypes with distinct clinical characteristics.
The international journal of tuberculosis and lung disease : the official journal of the International Union against Tuberculosis and Lung DiseaseEffects of functional endoscopic sinus surgery on the treatment of bronchiectasis combined with chronic rhino-sinusitis.
Acta oto-laryngologicaEtiology of Non-Cystic Fibrosis Bronchiectasis in Adults and Its Correlation to Disease Severity.
Annals of the American Thoracic SocietyAllergic bronchopulmonary aspergillosis in an adult with Kartagener syndrome.
BMJ case reportsAetiology and clinical characteristics of patients with bronchiectasis in a Chinese Han population: A prospective study.
Respirology (Carlton, Vic.)Aetiology of bronchiectasis in Guangzhou, southern China.
Respirology (Carlton, Vic.)Associações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Bronquiectasia idiopática.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Bronquiectasia idiopática
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
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.
- Characteristics of patients with idiopathic bronchiectasis in comparison to post-infectious bronchiectasis in South Korea.
- CFTR activity in nasal potential difference of adults with idiopathic bronchiectasis.
- Phenotyping Bronchiectasis Frequent Exacerbator: A Single Centre Retrospective Cluster Analysis.
- Acrophialophora jodhpurensis and Nocardia in idiopathic bronchiectasis: Colonizers or culprits?'.
- Multi-drug resistant Pseudomonas aeruginosa isolation is an independent risk factor for recurrent hemoptysis after bronchial artery embolization in patients with idiopathic bronchiectasis: a retrospective cohort study.
- Alpha-1 Antitrypsin Deficiency Beyond COPD and Emphysema: A Narrative Review.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:60033(Orphanet)
- MONDO:0018956(MONDO)
- GARD:16664(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q32778(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
