Pular para o conteúdo
Bronquiectasia idiopática
ORPHA:60033CID-10 · J47CID-11 · CA24DOENÇA RARA
Esta doença tem causa genética. Recomendamos procurar um médico geneticista para diagnóstico, exames genéticos e aconselhamento familiar.
lungInício todas idadesHerança Unknown
Também conhecida comoIB

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).

Em construçãohistóricoSugerir correção
Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

💬
EM LINGUAGEM SIMPLES

A bronquiectasia idiopática é uma condição respiratória crônica em que os brônquios sofrem dilatação permanente e dano estrutural, sem que nenhuma causa anterior seja descoberta. No dia a dia, a pessoa costuma sentir tosse frequente com catarro, falta de ar, chiado no peito e episódios repetidos de infecções pulmonares. No Brasil, a condição não consta na lista oficial de diretrizes e PCDTs de doenças raras do Ministério da Saúde, não havendo remédios específicos listados no catálogo para entrega pelo SUS. O acompanhamento médico é focado na proteção dos pulmões e na reabilitação respiratória, enquanto novas terapias são pesquisadas em ensaios clínicos internacionais.

📋
Informacoes curadas por IA — podem conter imprecisoes

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).

Pesquisas ativas
89 ensaios
332 total registrados no ClinicalTrials.gov
Publicações científicas
105 artigos
Último publicado: 2026 Feb 22

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-5 / 10 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
29.0
Europe
Início
All ages
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: J47
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

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

🫁
Pulmão
9 sintomas
📏
Crescimento
1 sintomas
❤️
Coração
1 sintomas
🛡️
Imunológico
1 sintomas
🫃
Digestivo
1 sintomas
😀
Face
1 sintomas

+ 10 sintomas em outras categorias

Características mais comuns

100%prev.
Bronquiectasia
90%prev.
Infecção do trato respiratório
Muito frequente (99-80%)
90%prev.
Fisiologia anormal do sistema respiratório
Muito frequente (99-80%)
90%prev.
Tosse produtiva
Muito frequente (99-80%)
55%prev.
Crepitações
Frequente (79-30%)
55%prev.
Hemoptise
Frequente (79-30%)
24sintomas
Muito frequente (4)
Frequente (8)
Ocasional (6)
Muito raro (1)
Sem dados (5)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 24 características clínicas mais associadas, ordenadas por frequência.

BronquiectasiaBronchiectasis
Muito frequente100%
Infecção do trato respiratórioRespiratory tract infection
Muito frequente (99-80%)90%
Fisiologia anormal do sistema respiratórioAbnormal respiratory system physiology
Muito frequente (99-80%)90%
Tosse produtivaProductive cough
Muito frequente (99-80%)90%
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico105PubMed
Últimos 10 anos40publicações
Pico20166 papers
Linha do tempo
2026Hoje · 2026🧪 1988Primeiro ensaio clínico📈 2016Ano de pico
Publicações por ano (últimos 10 anos)

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.

SCNN1AEpithelial sodium channel subunit alphaDisease-causing germline mutation(s) inTolerante
VIAS BIOLÓGICAS (2)
Stimuli-sensing channelsSensory perception of salty taste
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Glândula salivar
160.4 TPM
Rim - Medula
137.4 TPM
Esôfago - Mucosa
129.2 TPM
Tireoide
128.6 TPM
Pulmão
77.2 TPM
OUTRAS DOENÇAS (6)
pseudohypoaldosteronism, type IB1, autosomal recessivebronchiectasis with or without elevated sweat chloride 2Liddle syndrome 3Liddle syndrome
HGNC:10599UniProt:P37088
SCNN1GEpithelial sodium channel subunit gammaDisease-causing germline mutation(s) inRestrito
VIAS BIOLÓGICAS (2)
Stimuli-sensing channelsSensory perception of salty taste
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Tecido-específico)
Rim - Medula
47.1 TPM
Rim - Córtex
25.7 TPM
Vagina
22.7 TPM
Cérebro - Hemisfério cerebelar
14.9 TPM
Próstata
14.7 TPM
OUTRAS DOENÇAS (6)
pseudohypoaldosteronism, type IB3, autosomal recessiveLiddle syndrome 2bronchiectasis with or without elevated sweat chloride 3Liddle syndrome
HGNC:10602UniProt:P51170
CFTRCystic fibrosis transmembrane conductance regulatorCandidate gene tested inTolerante
VIAS BIOLÓGICAS (1)
ABC-family proteins mediated transport
MECANISMO DE DOENÇA

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.

OUTRAS DOENÇAS (8)
cystic fibrosiscongenital bilateral aplasia of vas deferens from CFTR mutationaquagenic palmoplantar keratodermacongenital bilateral absence of vas deferens
HGNC:1884UniProt:P13569
SCNN1BEpithelial sodium channel subunit betaDisease-causing germline mutation(s) inTolerante
VIAS BIOLÓGICAS (2)
Stimuli-sensing channelsSensory perception of salty taste
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Esôfago - Mucosa
79.6 TPM
Vagina
59.3 TPM
Skin Not Sun Exposed Suprapubic
38.9 TPM
Skin Sun Exposed Lower leg
37.9 TPM
Pulmão
34.9 TPM
OUTRAS DOENÇAS (6)
pseudohypoaldosteronism, type IB2, autosomal recessiveLiddle syndrome 1bronchiectasis with or without elevated sweat chloride 1Liddle syndrome
HGNC:10600UniProt:P51168

Variantes genéticas (ClinVar)

2.336 variantes patogênicas registradas no ClinVar.

🧬 SCNN1B: NM_000336.3(SCNN1B):c.1153-3C>G ()
🧬 SCNN1B: NM_000336.3(SCNN1B):c.1394del (p.Glu465fs) ()
🧬 SCNN1B: GRCh38/hg38 16p13.11-12.1(chr16:15368750-28342902)x4 ()
🧬 SCNN1B: NM_000336.3(SCNN1B):c.101_119del (p.Asn34fs) ()
🧬 SCNN1B: NM_000336.3(SCNN1B):c.1487A>G (p.Asn496Ser) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 1 variantes classificadas pelo ClinVar.

1
Patogênica (100.0%)
VARIANTES MAIS SIGNIFICATIVAS
SCNN1A: NM_001038.6(SCNN1A):c.942del (p.Asn315fs) [Likely pathogenic]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
✓Aprovado6
3Fase 35
2Fase 29
1Fase 11
·Pré-clínico79
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 100 ensaios
Carregando informações de tratamento...

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

Onde estão os ensaios

Com ensaio aberto em 32 países. O ponto verde marca onde há vaga agora.

🟢 Recrutando agora

65 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

NCT06872892 · The AIRTIVITY™ Study: A Study to Find Out Whether BI 1291583…Recrutando
PHASE3🇧🇷 Brasil · 🇦🇷 Argentina · 🇦🇺 Austrália +43
NCT07283497 · Itraconazole Therapy In Bronchiectasis With Airway MoldRecrutando
PHASE4🇺🇸 Estados Unidos
NCT07823842 · T2AIR: Real-World Efficacy and Safety of Biologics Targeting…Recrutando
🇨🇳 China
NCT07566611 · Primary Ciliary Dyskinesia in Adult BronchiectasisRecrutando
NA🇺🇸 Estados Unidos
NCT07608328 · Azithromycin to Modify Bronchiectasis Exacerbation RiskRecrutando
PHASE4🇪🇬 Egito
NCT07708116 · First in Human Trial of CTX-187 in Healthy Volunteers and Ch…Recrutando
PHASE1🇳🇱 Países Baixos
NCT07813299 · Efficacy and Safety of Bronchoscopic Local Amikacin Instilla…Recrutando
NA🇨🇳 China
NCT07805174 · High-Intensity Interval Exercise in Bronchiectasis PatientsRecrutando
NATurkey (Türkiye)
NCT07188675 · Functional Inspiratory Training in BronchiectasisRecrutando
NATurkey (Türkiye)
NCT07201051 · A Study to Assess the Effectiveness and Safety of GSK3862995…Recrutando
PHASE2🇦🇷 Argentina · 🇨🇳 China · 🇩🇪 Alemanha +9
NCT06897761 · Development of an Interactive Digital Respiratory Game and D…Recrutando
NATurkey (Türkiye)
NCT07647575 · Hypertonic Saline Inhalation for Nontuberculous Mycobacteria…Recrutando
NA🇹🇼 Taiwan
NCT07289100 · Novel Sensors and Artificial Intelligence for Detection of A…Recrutando
🇬🇧 Reino Unido
NCT07274631 · A Cohort for Inflammatory Respiratory Diseases: From Phenoty…Recrutando
🇫🇷 França
NCT07599969 · Bronchiectasis Phenotype Identification ModelRecrutando
🇪🇬 Egito
NCT07599839 · BASE: Bronchiectasis Severity and Exacerbation Risk StudyRecrutando
🇪🇬 Egito
NCT07192705 · Health Impact of Non-Tuberculous Mycobacteria Pulmonary Dise…Recrutando
🇬🇧 Reino Unido
NCT07493629 · Immune Status and Disease Control of Inflammatory Airway Dis…Recrutando
🇨🇳 China
NCT07121218 · Determination of Physical Fitness Level in BronchiectasisRecrutando
Turkey (Türkiye)
NCT07104942 · Effect of Expiratory Muscle Strength in Patients With Bronch…Recrutando
Turkey (Türkiye)
NCT07313904 · Effects of Environmental Fungal Exposure on Bronchial Asthma…Recrutando
🇨🇳 China
NCT07114120 · Clinical Study on the Treatment of Stable Bronchiectasis Wit…Recrutando
PHASE4🇨🇳 China
NCT07690345 · Fungal Status and Prognosis in ABPARecrutando
🇨🇳 China
NCT07648082 · Breathlessness Perceptions Within Respiratory DiseasesRecrutando
🇬🇧 Reino Unido
NCT07102589 · SWEEP: Shuttle Walking Test for Exercise Evaluation in Pulmo…Recrutando
South Korea
NCT06983366 · Validation and Clinical Utility of the Lung Sliding Index (L…Recrutando
🇪🇬 Egito
NCT06926881 · OLE Therapy With BE Patients in Home Care StudyRecrutando
NA🇺🇸 Estados Unidos
NCT07060079 · The Use of Entropy to Assess Sleep Disordered Breathing in C…Recrutando
🇬🇧 Reino Unido
NCT06900062 · The C-BRIDGE Study: China Bronchiectasis Research Involving …Recrutando
🇨🇳 China
NCT06798077 · Chronic Airway Disease and Multimorbidity CohortRecrutando
🇨🇳 China
NCT06801327 · Comparison Between Conventional Respiratory Physiotherapy an…Recrutando
NA🇮🇹 Itália
NCT06625944 · Exploring How Viral Infections Affect People With Chronic Lu…Recrutando
🇬🇧 Reino Unido
NCT06242795 · Hypertonic Saline in NCFBRecrutando
PHASE4🇺🇸 Estados Unidos
NCT06820983 · Evaluation of the Quality of Life of Patients With DBB With …Recrutando
NA🇫🇷 França
NCT06760273 · Long-term Impact of Inhaled Tobramycin for Pseudomonas Aerug…Recrutando
🇨🇳 China
NCT06368804 · Comparison of Two Antibiotic Regimens for the Treatment of E…Recrutando
PHASE2🇫🇷 França
NCT06726356 · Value of Bronchoalveolar Lavage with Acetylcysteine in the T…Recrutando
NA🇨🇳 China
NCT06931002 · A Rhinovirus Challenge Study to Investigate Exacerbations an…Recrutando
NA🇬🇧 Reino Unido
NCT06512064 · Acoustic Waveform Respiratory EvaluationRecrutando
NA🇺🇸 Estados Unidos
NCT06326957 · Reducing Chronic Breathlessness in Adults by Following a Sel…Recrutando
NA🇬🇧 Reino Unido
NCT06528418 · Identification of Multiple Pulmonary Diseases Using Volatile…Recrutando
🇨🇳 China
NCT06551337 · Vitamin D Replacement in BronchiectasisRecrutando
PHASE4Hong Kong
NCT06344000 · Study on Disease Progression and Nutritional Status in Bronc…Recrutando
🇨🇳 China
NCT06346938 · The Clinical Significance of CT-based Biomarkers in the Clas…Recrutando
🇨🇳 China
NCT06631261 · Cardiopulmonary Responses to 6-Minute Stepper Test in Bronch…Recrutando
Turkey (Türkiye)
NCT06166056 · A Study to Investigate the Safety, Tolerability, and Pharmac…Recrutando
PHASE1, PHASE2🇬🇧 Reino Unido
NCT06209047 · Bronchoscopic Levofloxacin, Gentamicin, or Sham for Acute Ex…Recrutando
PHASE4🇪🇬 Egito
NCT05783869 · Study of Bronchiectasis and Associated Cardiovascular Comorb…Recrutando
🇪🇬 Egito
NCT05741697 · HFNC in Management of Bronchiectasis ExacerbationRecrutando
🇪🇬 Egito
NCT06144996 · Development of a Canadian Bronchiectasis and NTM DatabaseRecrutando
🇨🇦 Canadá
NCT05407792 · Efficacy and Safety of Long-term Oral Staphylococcus Albican…Recrutando
NA🇨🇳 China
NCT06475469 · Description of the Immune Deficiency in Patients With Untrea…Recrutando
NA🇫🇷 França
NCT05095090 · Study of Hospitalised Patients With Acute Respiratory Condit…Recrutando
🇬🇧 Reino Unido
NCT06368388 · Establishing Personalized Phage Therapy and Its Comparative …Recrutando
🇧🇪 Bélgica
NCT05731427 · Research on the Mechanism Affecting Progression of Bronchiec…Recrutando
🇨🇳 China
NCT04966793 · Microbial Colonization Distribution and Adaptive Evolution o…Recrutando
🇨🇳 China
NCT03561818 · Comparison of PR Efficiency in Home-based With Hospital-base…Recrutando
NATurkey (Türkiye)
NCT03839992 · Detection of Unsuspected Small Airways Obstruction in Cystic…Recrutando
🇺🇸 Estados Unidos
NCT03120481 · Controls for Respiratory DiseasesRecrutando
South Korea
NCT02779478 · Evaluation Of The Lung Microbiome In NTM BronchiectasisRecrutando
🇺🇸 Estados Unidos
NCT02803242 · COPD Patient-Powered Research NetworkRecrutando
🇺🇸 Estados Unidos
NCT02527486 · Seoul National University Airway RegistryRecrutando
South Korea
NCT00943514 · Natural History of BronchiectasisRecrutando
🇺🇸 Estados Unidos
NCT06820749 · A Study to Evaluate the Efficacy and Safety of HSK31858 Tabl…Por convite
PHASE2🇨🇳 China
NCT06746077 · Investigating Novel Strategies in Pediatric Immune Responses…Por convite
🇩🇰 Dinamarca

Outros ensaios clínicos

332 ensaios clínicos encontrados, 89 ativos.

Distribuição por fase
NCT07577804 · A Study to Evaluate the Efficacy and Safety of CHF10196 Tabl…Em breve
PHASE3
NCT05351242 · THERMotherapy Against Persistent Bacterial LUNG InfectionsEm breve
NA🇩🇰 Dinamarca
NCT07067528 · The Feasibility and Acceptability of a Post-tuberculosis Lun…Em breve
NAUganda
NCT07791147 · Family-centred Pulmonary Rehabilitation to Empower CarersEm breve
NA🇵🇹 Portugal
NCT07539571 · Telerehabilitation in Patients With BronchiectasisEm breve
NA🇪🇸 Espanha
NCT07631507 · A Study to Evaluate the Diagnostic Performance of Portable O…Em breve
NCT07722364 · HFCWO in Children With Non-CF BronchiectasisEm breve
NA🇪🇬 Egito
NCT07628530 · Reference Equations and Normative Data for Isometric Quadric…Em breve
🇪🇸 Espanha
NCT07523165 · Efficacy and Safety of Lifei Qingchang Granules for Stable B…Em breve
PHASE2🇨🇳 China
NCT07443124 · Simeox 200 US StudyEm breve
NA🇺🇸 Estados Unidos
NCT07291167 · Study on the Correlation Between Metabolomics and Anxiety an…Em breve
🇨🇳 China
NCT07274020 · Long-Term Safety and Efficacy of Moxifloxacin in Bronchiecta…Em breve
PHASE3🇪🇬 Egito
NCT07037303 · Comparing Active Cycle of Breathing Techniques (ACBT) and Ae…Em breve
NASouth Korea
NCT06995989 · Effects of Energy Conservation Techniques With Pursed Lip Br…Em breve
NAPakistan
NCT06922916 · Perioperative Risk Factors Related to the Prognosis of Lung …Em breve
🇨🇳 China
NCT06938022 · Respiratory Microbiota, Infection Characteristics and Imagin…Em breve
NCT06409299 · Enhancing Lung Health in Kids With Structural Lung Damage an…Em breve
PHASE3
NCT07733323 · Respiratory Physiotherapy for Patients With BronchiectasisAtivo
🇪🇸 Espanha
NCT06981091 · A Multicenter, Randomized, Double-blind, Placebo-controlled …Ativo
PHASE2🇨🇳 China
NCT07147803 · Sleep Quality in Patients With Non-cystic Fibrosis Bronchiec…Ativo
🇪🇬 Egito
NCT06636487 · Expand Pulmonary Rehabilitation to Other Chronic Respiratory…Ativo
NA🇩🇰 Dinamarca
NCT05846230 · Clairleafᵀᴹ: A Study to Test Long-term Treatment With BI 129…Ativo
PHASE2🇦🇺 Austrália · 🇧🇪 Bélgica · Bulgaria +19
NCT07490704 · Clinical Outcomes of BronchiEctaSis in Taiwan: A Multicenter…Ativo
🇹🇼 Taiwan
NCT06106789 · A Study of the Clinical Benefit of Tobramycin Inhalation Sol…Ativo
🇨🇳 China
NCT06280391 · A Proof-of-Concept Study to Assess the Efficacy, Safety and …Concluído
PHASE2🇧🇷 Brasil · 🇦🇷 Argentina · 🇨🇦 Canadá +17
NCT03973684 · Evaluation of Halitosis After Treatment With Photodynamic Th…Concluído
NA🇧🇷 Brasil
NCT03591484 · Treatment of Halitosis With Photodynamic Therapy in Older Pa…Concluído
NA🇧🇷 Brasil
NCT02514226 · Evaluation of Periodontal Treatment in Patients With Bronchi…Concluído
NA🇧🇷 Brasil
NCT02731482 · Short-and Long-term Effects of a Home-based Rehabilitation P…Concluído
NA🇧🇷 Brasil
NCT02509637 · Acute Effects of a Flutter Device and Chest Wall Compression…Concluído
NA🇧🇷 Brasil
NCT02106832 · Ciprofloxacin Dry Powder for Inhalation (DPI) in Non-cystic …Concluído
PHASE3🇧🇷 Brasil · 🇦🇷 Argentina · 🇦🇺 Austrália +22
NCT02208830 · Physical Capacity in Patients With Bronchiectasis Before and…Concluído
NA🇧🇷 Brasil
NCT01300403 · Physiological Effects of Expiration With the Glottis Open in…Concluído
NA🇧🇷 Brasil
NCT00656721 · Respiratory Mechanics Effects of Flutter Valve in Bronchiect…Concluído
NA🇧🇷 Brasil
NCT07063290 · COMBO Endoscopy Oropharyngeal Airway in Sedated Fiberoptic B…Concluído
PHASE2🇨🇳 China
Ver todos no ClinicalTrials.gov
🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

Timeline de publicações
41 papers (10 anos)
#1

Characteristics of patients with idiopathic bronchiectasis in comparison to post-infectious bronchiectasis in South Korea.

Tuberculosis and respiratory diseases2026 Jan 27

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.

#2

CFTR activity in nasal potential difference of adults with idiopathic bronchiectasis.

Respiratory research2026 Mar 03
#3

Phenotyping Bronchiectasis Frequent Exacerbator: A Single Centre Retrospective Cluster Analysis.

Biomedicines2025 Aug 30

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.

#4

Acrophialophora jodhpurensis and Nocardia in idiopathic bronchiectasis: Colonizers or culprits?'.

Indian journal of medical microbiology2025
#5

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.

Respiratory research2024 Oct 26

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

Ver todas no PubMed

📚 EuropePMC32 artigos no totalmostrando 40

2026

CFTR activity in nasal potential difference of adults with idiopathic bronchiectasis.

Respiratory research
2026

Characteristics of patients with idiopathic bronchiectasis in comparison to post-infectious bronchiectasis in South Korea.

Tuberculosis and respiratory diseases
2025

Phenotyping Bronchiectasis Frequent Exacerbator: A Single Centre Retrospective Cluster Analysis.

Biomedicines
2025

Acrophialophora jodhpurensis and Nocardia in idiopathic bronchiectasis: Colonizers or culprits?'.

Indian journal of medical microbiology
2024

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.

Respiratory research
2024

Destroyed lung contributes to the recurrence of hemoptysis after bronchial artery embolization in patients with post-tuberculosis bronchiectasis.

Journal of infection and public health
2024

Deciphering Idiopathic Bronchiectasis One Gene at a Time.

American journal of respiratory and critical care medicine
2024

Asymptomatic Dysphagia and Aspiration in Patients with Idiopathic Bronchiectasis.

Lung
2024

Bronchiectasis in renal transplant patients: a cross-sectional study.

European journal of medical research
2023

Idiopathic bronchiectasis. What are we talking about?

Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia
2023

Usefulness of High-resolution Computed Tomography for Macrolide Therapy of Idiopathic Bronchiectasis.

The open respiratory medicine journal
2023

Pseudomonas aeruginosa isolation is an important predictor for recurrent hemoptysis after bronchial artery embolization in patients with idiopathic bronchiectasis: a multicenter cohort study.

Respiratory research
2022

Prevalence of chronic rhinosinusitis and its relating factors in patients with bronchiectasis: findings from KMBARC registry.

The Korean journal of internal medicine
2022

Leveraging Open Electronic Health Record Data and Environmental Exposures Data to Derive Insights Into Rare Pulmonary Disease.

Frontiers in artificial intelligence
2021

Heterogeneity of non-cystic-fibrosis bronchiectasis in multiethnic Singapore: A prospective cohort study at a tertiary pulmonology centre.

Annals of the Academy of Medicine, Singapore
2021

Common Variable Immunodeficiency and Other Immunodeficiency Syndromes in Bronchiectasis.

Seminars in respiratory and critical care medicine
2021

Outcomes of bronchial artery embolization for the management of hemoptysis.

La Tunisie medicale
2021

Bronchial artery embolization: A gratifying life-saving procedure.

The Indian journal of tuberculosis
2020

Performance of Multidimensional Severity Scoring Systems in Patients with Post-Tuberculosis Bronchiectasis.

International journal of chronic obstructive pulmonary disease
2020

Co-infection of SARS-CoV-2 and Bordetella bronchiseptica in a young man with idiopathic non-cystic bronchiectasis and vitamin D3 deficiency.

Respiratory medicine case reports
2020

Characterization 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 Tisilogia
2019

Noncystic Fibrosis Bronchiectasis: Evaluation of an Extensive Diagnostic Protocol in Determining Pediatric Lung Disease Etiology.

Pediatric allergy, immunology, and pulmonology
2020

Impact of mannose-binding lectin 2 gene polymorphisms on disease severity in noncystic fibrosis bronchiectasis in children.

Pediatric pulmonology
2019

New-onset asthma in a bilateral lung transplant patient.

BMJ case reports
2019

[Correlation between chest CT features and clinical characteristics of patients with bronchiectasis].

Zhonghua yi xue za zhi
2018

Achromobacter xylosoxidans in idiopathic cystic bronchiectasis.

BMJ case reports
2018

Pathophysiology and Genetics of Bronchiectasis Unrelated to Cystic Fibrosis.

Lung
2018

Survival of pathogenic Mycobacterium abscessus subsp. massiliense in Acanthamoeba castellanii.

Research in microbiology
2017

Etiology of Bronchiectasis in a Cohort of 2047 Patients. An Analysis of the Spanish Historical Bronchiectasis Registry.

Archivos de bronconeumologia
2016

Eradication of Mycobacterium abscessus Pulmonary Infection in a Child With Idiopathic Bronchiectasis.

Global pediatric health
2017

Bronchiectasis in yellow nail syndrome.

Respirology (Carlton, Vic.)
2016

Enlarged Dural Sac in Idiopathic Bronchiectasis Implicates Heritable Connective Tissue Gene Variants.

Annals of the American Thoracic Society
2016

The Multiple Faces of Non-Cystic Fibrosis Bronchiectasis. A Cluster Analysis Approach.

Annals of the American Thoracic Society
2016

Allergic bronchopulmonary aspergillosis complicating Swyer-James-Macleod's syndrome: case report and review of literature.

European annals of allergy and clinical immunology
2016

Unsupervised 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 Disease
2016

Effects of functional endoscopic sinus surgery on the treatment of bronchiectasis combined with chronic rhino-sinusitis.

Acta oto-laryngologica
2015

Etiology of Non-Cystic Fibrosis Bronchiectasis in Adults and Its Correlation to Disease Severity.

Annals of the American Thoracic Society
2015

Allergic bronchopulmonary aspergillosis in an adult with Kartagener syndrome.

BMJ case reports
2015

Aetiology and clinical characteristics of patients with bronchiectasis in a Chinese Han population: A prospective study.

Respirology (Carlton, Vic.)
2015

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 →

Doença com base genética

Um médico geneticista pode ajudar no diagnóstico de Bronquiectasia idiopática e no aconselhamento genético da família.

Vai consultar um especialista? Confirme o registro dele no conselho.
Conselhos e sociedades

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Perguntas frequentes

O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu

Respostas geradas por IA a partir das fontes citadas

A bronquiectasia idiopática ocorre sem que seja encontrada uma causa básica subjacente, como infecções prévias graves, imunodeficiências ou discinesia ciliar. Pesquisas genéticas analisam alterações em genes reguladores de canais de sódio e cloro, como SCNN1A e CFTR, mas o padrão de herança não é estabelecido.

Referências

Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete

6 publicações do grafo RarasNet (PubMed) · 7 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.

  1. ORPHA:60033
    Orphanet
  2. GARD:16664
    GARD (NIH)
  3. 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.

Citar este verbete

Raras. (s.d.). Bronquiectasia idiopática. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/bronquiectasia-idiopatica

Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Bronquiectasia idiopática
Compêndio · Raras BR

Bronquiectasia idiopática

ORPHA:60033 · MONDO:0018956
Prevalência
1-5 / 10 000
Herança
Not applicable
CID-10
J47 · Bronquectasia
CID-11
Ensaios
89 ativos
Início
All ages
Prevalência
29.0 (Europe)
MedGen
UMLS
C0006267
EuropePMC
Wikidata
Wikipedia
Papers 10a

📋 Origem dos dados

Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.

Doença rara (ontologia)
fonte: Orphanet
Identificador unificado
fonte: MONDO
Indexação biomédica
fonte: MeSH (NLM)
Dado público estruturado
fonte: Wikidata
Rara