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Malformação congênita das vias aéreas pulmonares, tipo 1
ORPHA:280832CID-10 · Q33.0CID-11 · LA75.4DOENÇA RARA

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Introdução

O que você precisa saber de cara

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Malformação congênita das vias aéreas pulmonares, tipo 1, é uma anomalia rara caracterizada por cistos únicos ou múltiplos na região pulmonar. Frequentemente, apresenta-se com sintomas respiratórios ou é assintomática, sendo diagnosticada por imagem.

Publicações científicas
1 artigos
Último publicado: 2026 Feb
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SUS: Cobertura mínimaScore: 35%
Centros em: PA, PE, BA, CE, PB +10CID-10: Q33.0
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Últimos 10 anos120publicações
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Genética e causas

O que está alterado no DNA e como passa nas famílias

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Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Malformação congênita das vias aéreas pulmonares, tipo 1

Centros de Referência SUS

24 centros habilitados pelo SUS para Malformação congênita das vias aéreas pulmonares, tipo 1

Centros para Malformação congênita das vias aéreas pulmonares, tipo 1

Detalhes dos centros

Hospital Universitário Prof. Edgard Santos (HUPES)

R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)

Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da UFG

Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Universitário da UFJF

R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442

Atenção Especializada

Rota
Anomalias Congênitas

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Julio Müller (HUJM)

R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092

Atenção Especializada

Rota
Anomalias Congênitas

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Lauro Wanderley (HULW)

R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470

Atenção Especializada

Rota
Anomalias Congênitas

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Universitário Regional de Maringá (HUM)

Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)

Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital de Clínicas de Porto Alegre (HCPA)

Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Base de São José do Rio Preto

Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas de Ribeirão Preto (HCRP-USP)

R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

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Publicações mais relevantes

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Timeline de publicações
1 papers (10 anos)
#1

Type 1 Congenital Pulmonary Airway Malformation: Diagnostic Accuracy of Radiological Features.

Pediatric pulmonology2026 Mar

There are several different types of congenital lung malformation (CLM). Malignant transformation to adenocarcinoma is almost exclusively associated with type 1 congenital pulmonary airway malformation (CPAM). Histological examination is the only reliable method to define malformation subtype. To determine if the largest cyst diameter on CT imaging is an accurate diagnostic test for the presence or absence of type 1 CPAM on histological analysis. All cases of antenatally identified CLM that underwent surgical resection between 2004 and 2023 were identified. The index test (diameter of largest cyst on CT imaging) was determined for each case. The reference standard test was the diagnosis of type 1 CPAM on the histopathology report. Measures of accuracy of the index test in detecting the presence or absence of type 1 CPAM were calculated. For asymptomatic cases (n = 117) the prevalence of type 1 CPAM was 23.9%. Largest cyst diameter discriminated well between those with and without type 1 CPAM, with an area under the receiver operating characteristic curve of 0.852 (95% CI 0.77-0.91, p < 0.001). At a threshold diameter of ≥ 5 mm the index test performed accurately: Sensitivity 85.7% (95% CI 67.3-96.0), specificity 76.5% (95% CI 65.8-85.2), positive predictive value 55.8% (95% CI 45.3-65.8) and negative predictive value 93.9% (95% CI 86.1-97.5). In this cohort type 1 CPAM has a low prevalence and could be accurately distinguished through radiological features.

#2

Surgical Management of Congenital Lung Malformations in Children-A Single-Center Analysis of 25 Years of Experience.

The clinical respiratory journal2026 Feb

Congenital lung malformations (CLMs) in pediatric patients encompass various structural abnormalities arising during fetal development, which can range from benign to life-threatening. The most common types include congenital pulmonary airway malformation (CPAM) and bronchopulmonary sequestration (BPS). This study aimed to retrospectively analyze patients treated surgically for CLMs, focusing on indications for surgery, surgical techniques, and outcomes. Data were collected from the medical records of patients who underwent thoracoscopy (n = 140) or thoracotomy (n = 52) between 2000 and 2024. Among these, 50 patients were diagnosed with CLMs, who were taken for further analysis. Study group inclusion criteria were performing a CT/X-ray imaging examination indicating the presence of a defect, surgery, and available pathology results. Exclusion criteria were incomplete data or lack of surgical procedure. Final study group included 37 patients who met inclusion criteria for further analysis. Detailed analysis encompassed demographics, clinical presentation, diagnostic methods, treatment, and follow-up. The cohort included patients diagnosed with CPAM type I (n = 12), CPAM type II (n = 7), pulmonary sequestration (n = 10), and other congenital malformations such as bronchogenic cyst (n = 2), congenital cystic pulmonary disease (n = 2), CPAM type IV-pleuropulmonary blastoma type I (PPB) (n = 1), juvenile emphysema (n = 2), and mediastinal cyst (n = 1). The average age at diagnosis was 37.61 months. The cohort consisted of 17 females and 20 males. The right lung was involved in 41.18% of cases, and the left lung in 58.82%. Symptoms at presentation included pneumonia (n = 9), respiratory failure (n = 8), emphysema (n = 3), and pneumothorax (n = 2). Fifteen patients were asymptomatic, and the diagnosis was incidental. Seven patients had other congenital diseases, such as heart defects. None of the patients other than the child with PPB were offered genetic diagnostics, albeit for DICER1 or KRAS mutations. The study underscores the heterogeneity in age and clinical presentation at the time of CLM diagnosis, highlighting the importance of an individualized and tailored approach to management.

#3

Challenges with Congenital Lung Cysts: When to Consider DICER1 Testing? A Narrative Review.

Acta medica portuguesa2026 Feb 20

Congenital pulmonary airway malformations (CPAMs), according to the Stocker classification, comprise five types, two of which are non-cystic in nature (types 0 and 3) whereas the others present as cystic lung lesions (types 1, 2 and 4). While there is consensus that symptomatic lesions should be managed surgically, the asymptomatic cases are more problematic in terms of therapeutic intervention. The dilemma is further complicated by CPAM types 1 and 4 and their preneoplastic potential. In the case of CPAM type 1, there are reports of lipidic adenocarcinoma arising from the mucinous component. Type 4 has been equated to type I or cystic pleuropulmonary blastoma (PPB), a proposition that has been challenged in the past. Pleuropulmonary blastoma is associated with a heterozygous germline or somatic variants in DICER1. It was recognized that the earliest stage of the sarcomatous progression of PPB was a multicystic lesion in the periphery of the lung whose architectural features were identical to CPAM type 4. This narrative review addresses key aspects of the pathogenetic and diagnostic issues of type I PPB/CPAM type 4, as well as the association of DICER1 and PPB, offering valuable insights for pediatricians and clinicians caring for young adults who are impacted by the presence of a germline DICER1 variant.

#4

Perioperative Care for Pediatric Patients Undergoing Lung Surgery: Retrospective Single Center Review.

Paediatric anaesthesia2026 Feb 11

Procedures involving lung surgery in the pediatric population are relatively uncommon and tend to be centralized in a limited number of institutions. Anesthesia literature is also sparse. To have a clear overview of frequency, underlying pathologies, ICU and hospital stay, anesthetic techniques, one lung ventilation, and perioperative analgesia. We conducted a retrospective review in a single-center tertiary hospital, from January 2014 to 2023. We included children aged 0-16 years who underwent major lung surgery and received anesthesia managed by the pediatric anesthesia team. Patients with congenital diaphragmatic hernia, esophageal atresia, or those undergoing surgery for pectus excavatum were excluded. Our main outcome measures include the type of underlying pathology and surgical procedure, ICU and hospital stay, methods of one-lung ventilation, source of perioperative analgesia, and the incidence of (postoperative) complications. We included 73 patients, 55% male and 45% female. The median age was 2.8 years and the median weight was 12.9 kg. Congenital pulmonary airway malformation was diagnosed in 43%, and 45% underwent a (partial) lobectomy. The proportion of video-assisted thoracoscopic surgery was comparable to that of open thoracotomy. One-lung ventilation (OLV) was used in 81%, primarily facilitated by a bronchial blocker. Epidural catheterization with ropivacaine for perioperative pain management was used in 71%. The proportion of patients receiving intravenous morphine on postoperative Days 1, 2, 3, 4, and 5 was 40%, 34%, 19%, 15%, and 11%, respectively. Insufficient pain control was reported in 14%. 70% were admitted to the ICU for one night. The average length of hospital stay was 8 days. We addressed the anesthetic care of pediatric lung surgery procedures. OLV was required in the majority of the population and a bronchial blocker was the preferred method. Epidural analgesia was the preferred choice to tackle perioperative pain.

#5

Spontaneous pneumothorax as the initial presentation of congenital pulmonary airway malformation in a teenager without prior symptoms.

Radiology case reports2026 Feb

Congenital Pulmonary Airway Malformation (CPAM) is a rare developmental lung anomaly, usually diagnosed prenatally but often asymptomatic until early childhood. It can present with respiratory distress, recurrent infections, or rarely, spontaneous pneumothorax (PTX). We report a 15-year-old female who presented with spontaneous PTX. After chest tube placement and lung re-expansion, imaging revealed an 8 cm cystic lesion in the left lower lobe, which was surgically resected. Histopathology confirmed CPAM type 1. While PTX in adolescents is typically due to primary spontaneous causes, infection, or trauma, this case highlights the need to consider congenital anomalies like CPAM in the differential diagnosis, especially in patients without neoplastic or vascular risk factors.

Publicações recentes

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📚 EuropePMC253 artigos no totalmostrando 119

2026

Type 1 Congenital Pulmonary Airway Malformation: Diagnostic Accuracy of Radiological Features.

Pediatric pulmonology
2026

Surgical Management of Congenital Lung Malformations in Children-A Single-Center Analysis of 25 Years of Experience.

The clinical respiratory journal
2026

Challenges with Congenital Lung Cysts: When to Consider DICER1 Testing? A Narrative Review.

Acta medica portuguesa
2026

Perioperative Care for Pediatric Patients Undergoing Lung Surgery: Retrospective Single Center Review.

Paediatric anaesthesia
2026

Spontaneous pneumothorax as the initial presentation of congenital pulmonary airway malformation in a teenager without prior symptoms.

Radiology case reports
2025

The essential role of cytoskeleton and ciliary abnormalities in the development of congenital pulmonary airway malformations.

Pediatric surgery international
2025

A Case of Type 1 Congenital Pulmonary Airway Malformation (CPAM) in an Eight-Year-Old Girl Without a History of Recurrent Pneumonia or Respiratory Failure, Presenting With a Pulmonary Abscess.

Cureus
2026

Congenital Lung Malformations: A Comprehensive Overview of Current Knowledge-Narrative Review.

Archivos de bronconeumologia
2025

Type III Congenital Pulmonary Airway Malformation: A Case Report.

Iranian journal of pathology
2025

Neonatal Congenital Pulmonary Airway Malformation Causing Respiratory Failure Managed With Early Surgical Resection: A Case Report.

British journal of hospital medicine (London, England : 2005)
2025

Atypical mesenchyme in congenital pulmonary airways malformation: a promising new focus.

Respiratory research
2025

Multiple congenital pulmonary malformations in a black-capped Bolivian squirrel monkey (Saimiri boliviensis boliviensis).

Journal of comparative pathology
2025

A diagnostic challenge: The unusual combination of Kommerell's diverticulum and pulmonary sequestration due to type 1 congenital pulmonary airway malformation in a young patient.

Radiology case reports
2025

Computed tomography (CT)-based classification and management pathways for hybrid lesions in children: a comparative analysis of congenital pulmonary airway malformation (CPAM) and bronchopulmonary sequestration (BPS).

Clinical radiology
2025

Critical Care Dilemma: Complex Congenital Pulmonary Airway Malformation With Pulmonary Hypertension in a Neonate.

Cureus
2025

Congenital pulmonary airway malformation type 2 associated with intralobar pulmonary sequestration in an adult patient: a case report.

Future science OA
2025

Congenital Pulmonary Airway Malformation with Pulmonary Arteriovenous Malformation in Adulthood: A Case Report.

Surgical case reports
2025

Comprehensive morphological, immunohistochemical, and molecular characterization of congenital pulmonary airway malformation (CPAM).

Virchows Archiv : an international journal of pathology
2025

Characterization of 45 cases of congenital lung malformation and association of inflammation with symptomatology.

Scientific reports
2025

Respiratory assessment and management of newborns and children with congenital lung diseases: a cohort study.

Italian journal of pediatrics
2025

Congenital bronchogenic cyst: A case study on early detection and surgical intervention.

International journal of surgery case reports
2025

Neonatal Surgery for Congenital Lung Malformations: Indications, Outcomes and Association With Malignancy.

Journal of pediatric surgery
2025

Congenital Pulmonary Hybrid Lesions: Clinical Presentation, Surgical Management, and Outcomes.

Indian journal of pediatrics
2025

Clinical features of atypical solid-type congenital pulmonary airway malformation (CPAM) type 1.

Pediatrics and neonatology
2025

Congenital pulmonary airway malformation in a cat.

Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc
2024

Congenital cystic adenomatoid malformation in a toddler: Unusual presentation with pleural effusion.

Radiology case reports
2024

Invasive Mucinous Adenocarcinoma in a Newborn With Antenatally Diagnosed Congenital Pulmonary Airway Malformation: A Case Report.

Cureus
2024

Congenital Pulmonary Airway Malformation in Preterm Infants: A Case Report and Review of the Literature.

Life (Basel, Switzerland)
2024

Clinical and histopathological spectrum of congenital pulmonary airway malformations: A case series.

International journal of surgery case reports
2024

Integrative analysis of bulk and single-cell RNA sequencing reveals the gene expression profile and the critical signaling pathways of type II CPAM.

Cell &amp; bioscience
2024

The ten-year evaluation of clinical characteristics in congenital lung anomaly in pediatrics; a retrospective study in North of Iran.

BMC pediatrics
2024

Defective mesenchymal Bmpr1a-mediated BMP signaling causes congenital pulmonary cysts.

eLife
2024

Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case.

Orphanet journal of rare diseases
2024

[Clinicopathological and genetic characteristics of congenital cystic adenomatoid malformation of lung and its associated lung cancer in adults].

Zhonghua bing li xue za zhi = Chinese journal of pathology
2023

Experience of video-assisted thoracic surgery treatment of congenital pulmonary airway malformation in infants less than 3 months of age.

Translational pediatrics
2023

Rare presentation of pneumothorax in a young woman with underlying congenital pulmonary airway malformation.

BMJ case reports
2024

The Effect of Steroids on Prenatally Diagnosed Lung Lesions.

Journal of pediatric surgery
2024

No Pathogenic DICER1 Gene Variants in a Cohort Study of 28 Children With Congenital Pulmonary Airway Malformation.

Journal of pediatric surgery
2023

Infantile type I pleuropulmonary blastoma presenting with dyspnea due to compression by pneumothorax and an occupying tumor: a case report.

Surgical case reports
2023

A complete spectrum of congenital cystic adenomatoid malformation of the lung deceptive clinical presentations and histological surprises; a single institutional study from a tertiary care hospital in North India.

Lung India : official organ of Indian Chest Society
2023

Congenital pulmonary malformations in children in a pediatric hospital in Peru, 2010-2020.

Boletin medico del Hospital Infantil de Mexico
2023

Congenital Pulmonary Airway Malformations With a Reconsideration and Current Perspective on the Stocker Classification.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
2023

Early resection of a rare congenital pulmonary airway malformation causing severe progressive respiratory distress in a preterm neonate: a case report and review of the literature.

BMC pediatrics
2023

Lung ultrasound description of a newborn with bronchial atresia: A case report.

Ultrasound (Leeds, England)
2023

Congenital pleuropulmonary blastoma in a newborn with a variant of uncertain significance in DICER1 evaluated by RNA-sequencing.

Maternal health, neonatology and perinatology
2023

Morphologic Features in Congenital Pulmonary Airway Malformations and Pulmonary Sequestrations Correlate With Mutation Status: A Mechanistic Approach to Classification.

The American journal of surgical pathology
2023

The long-term outcome following thoraco-amniotic shunting for congenital lung malformations.

Journal of pediatric surgery
2023

Type II congenital pulmonary airway malformation with primary ciliary dyskinesia in a 4-year-old child: A case report.

Pediatric pulmonology
2022

Modified thoracoscopic wedge resection of limited peripheral lesions in S10 for children with congenital pulmonary airway malformation: Initial single-center experience.

Frontiers in pediatrics
2023

Thoracoscopic repair of neonatal left diaphragmatic hernia with sac combined with both extralobar pulmonary sequestration and congenital pulmonary airway malformation.

Asian journal of endoscopic surgery
2023

Thoracoscopic segmentectomy for congenital pulmonary airway malformation arising in a lung with an accessory fissure: A case report.

Asian journal of endoscopic surgery
2023

Extralobar Pulmonary Sequestration in Adrenal Mimicking Neuroblastoma: A Case Report.

Fetal and pediatric pathology
2022

Innovative Fetal Therapy for a Giant Congenital Pulmonary Airway Malformation with Hydrops.

Fetal diagnosis and therapy
2022

Multimodality Imaging of Pleuropulmonary Blastoma: Pearls, Pitfalls, and Differential Diagnosis.

Seminars in ultrasound, CT, and MR
2022

Sarcomatoid change in adenocarcinoma arising in adulthood congenital pulmonary airway malformation.

Advances in respiratory medicine
2022

Neonatal congenital pulmonary airway malformation associated with mucinous adenocarcinoma and KRAS mutations.

Journal of pediatric surgery
2021

P1-20: Adulthood presentation of congenital pulmonary airway malformation type-1.

Respirology (Carlton, Vic.)
2021

Application and effects of an early childhood education machine on analgesia and sedation in children after cardiothoracic surgery.

Journal of cardiothoracic surgery
2021

An adult with episodic retrosternal chest pain: an unusual presentation of congenital pulmonary airway malformation - case report.

Journal of cardiothoracic surgery
2021

Mucinous Adenocarcinoma With Intrapulmonary Metastasis Harboring KRAS and GNAS Mutations Arising in Congenital Pulmonary Airway Malformation.

American journal of clinical pathology
2020

Fetal ultrasound and magnetic resonance imaging: a primer on how to interpret prenatal lung lesions.

Pediatric radiology
2021

Prediction of postnatal outcome in fetuses with congenital lung malformation: 2-year follow-up study.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2020

Left interval thoracoscopic pneumonectomy for type II communicating bronchopulmonary foregut malformation in a 17-month-old girl.

International journal of surgery case reports
2021

Obstetrician patterns of steroid administration for the prenatal management of congenital pulmonary airway malformations.

Journal of neonatal-perinatal medicine
2020

Deletion of Yy1 in mouse lung epithelium unveils molecular mechanisms governing pleuropulmonary blastoma pathogenesis.

Disease models &amp; mechanisms
2021

Pleuropulmonary blastoma: Difficulty in diagnosis and treatment of a case in Vietnam.

Pediatric hematology and oncology
2020

Single-cell transcriptome profiling reveals the mechanism of abnormal proliferation of epithelial cells in congenital cystic adenomatoid malformation.

Experimental cell research
2021

Mucinous adenocarcinoma arising in congenital pulmonary airway malformation: clinicopathological analysis of 37 cases.

Histopathology
2020

Early KRAS oncogenic driver mutations in nonmucinous tissue of congenital pulmonary airway malformations as an indicator of potential malignant behavior.

Human pathology
2020

Comparison of the Prognostic Factors of Fetuses With Congenital Pulmonary Airway Malformations According to Type.

Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine
2020

Thoracoscopic Resection in the Treatment of Spontaneous Pneumothorax.

Sisli Etfal Hastanesi tip bulteni
2020

Computed tomography features can distinguish type 4 congenital pulmonary airway malformation from other cystic congenital pulmonary airway malformations.

European journal of radiology
2020

Pleuropulmonary blastoma type I might arise in congenital pulmonary airway malformation type 4 by acquiring a Dicer 1 mutation.

Virchows Archiv : an international journal of pathology
2020

A case report of an unusual non-mucinous papillary variant of CPAM type 1 with KRAS mutations.

BMC pulmonary medicine
2019

New insights on congenital pulmonary airways malformations revealed by proteomic analyses.

Orphanet journal of rare diseases
2021

Obstetric and neonatal outcomes in pregnancies complicated by fetal lung masses: does final histology matter?

The journal of maternal-fetal &amp; neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
2019

Type I pleuropulmonary blastoma presenting as congenital pulmonary airway malformation: A report of two cases.

Indian journal of pathology &amp; microbiology
2020

Value of routine ultrasound examination at 35-37 weeks' gestation in diagnosis of fetal abnormalities.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2019

An adult patient with congenital pulmonary airway malformation and an esophageal cyst.

Annals of translational medicine
2019

Congenital Cystic Adenomatoid Malformation Volume Ratio in Prenatal Assessment of Prognosis of Fetal Pulmonary Sequestrations.

Current medical science
2021

Invasive mucinous adenocarcinoma of the lung arising in a type 1 congenital pulmonary airway malformation in a 68-year-old patient: a case report.

Acta chirurgica Belgica
2019

Giant Secondary Overgrowth of Type-1 Pulmonary Cystic Airway Malformation Upon Development of Anaplastic Lymphoma Kinase-Rearranged Adenocarcinoma.

Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer
2019

Alteration of cystic airway mesenchyme in congenital pulmonary airway malformation.

Scientific reports
2019

Manifestation of congenital pulmonary airway malformation in a 26-year-old adult, requiring surgery.

Interactive cardiovascular and thoracic surgery
2019

Cystic and pseudocystic pulmonary malformations in children: Clinico-pathological correlation.

Annals of diagnostic pathology
2019

In prenatally diagnosed CPAM, does the affected lobe influence the timing of symptom onset?

Pediatric surgery international
2019

Early vs late resection of asymptomatic congenital lung malformations.

Journal of pediatric surgery
2018

The Use of Fetal Bronchoscopy in the Diagnosis and Management of a Suspected Obstructive Lung Mass.

AJP reports
2018

Congenital cystic adenomatoid malformation in adults detected after infection.

Respirology case reports
2018

An investigation on clinical differences between congenital pulmonary airway malformation and bronchial atresia.

Journal of pediatric surgery
2018

[Pulmonary lobectomy in children: the sooner the better?].

Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica
2018

Congenital cystic adenomatoid malformation in adults, presenting as a single cyst.

Asian cardiovascular &amp; thoracic annals
2018

Congenital cystic adenomatoid malformation - diagnostic and therapeutic procedure: 8-year experience of one medical centre.

Kardiochirurgia i torakochirurgia polska = Polish journal of cardio-thoracic surgery
2018

Types II and III congenital pulmonary airway malformation with hydrops treated in utero with percutaneous sclerotherapy.

Prenatal diagnosis
2018

Accessory scrotum and congenital perineal lipoma in a child with type 2 congenital pulmonary airway malformation: A report of an unusual.

International journal of health sciences
2018

Case of mucinous adenocarcinoma of the lung associated with congenital pulmonary airway malformation in a neonate.

Korean journal of pediatrics
2018

Congenital Cystic Adenomatoid Malformation Diagnosed During First-Trimester Ultrasound Scan.

The American journal of case reports
2019

Congenital Cystic Lung Lesions: Redefining the Natural Distribution of Subtypes and Assessing the Risk of Malignancy.

The American journal of surgical pathology
2017

It's Rare So Be Aware: Pleuropulmonary Blastoma Mimicking Congenital Pulmonary Airway Malformation.

The Thoracic and cardiovascular surgeon reports
2017

Diagnosis and treatment of communicating bronchopulmonary foregut malformation: Report of two cases and review of the literature.

Medicine
2016

Type II congenital pulmonary airway malformation associated with intralobar pulmonary sequestration: report of a case and review of classification criteria.

Pathologica
2016

Association between Congenital Lung Malformations and Lung Tumors in Children and Adults: A Systematic Review.

Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer
2016

Pulmonary Kirsten Rat Sarcoma Virus Mutation Positive Mucinous Adenocarcinoma Arising in a Congenital Pulmonary Airway Malformation, Mixed Type 1 and 2.

The Annals of thoracic surgery
2017

Type I Pleuropulmonary Blastoma versus Congenital Pulmonary Airway Malformation Type IV.

Neonatology
2016

[FETAL THERAPY: INTRAUTERINE THORACO-AMNIOTIC SHUNTING IN MACROCYSTIC TYPE CYSTIC ADENOMATOID MALFORMATION OF THE LUNG: REVIEW OF THE LITERATURE AND CASE REPORT].

Akusherstvo i ginekologiia
2017

Thoracoamniotic Shunts in Macrocystic Lung Lesions: Case Series and Review of the Literature.

Fetal diagnosis and therapy
2016

Outcome of infants operated on for congenital pulmonary malformations.

Pediatric pulmonology
2016

Pulmonary Arteriovenous Fistula: Clinical and Histologic Spectrum of Four Cases.

Journal of pathology and translational medicine
2016

Retrospective Evaluation of Children with Congenital Pulmonary Airway Malformation: A Single Center Experience of 20 Years.

Fetal and pediatric pathology
2016

Congenital Cystic Adenomatoid Malformation, Type II: A Rare Cause of Haemoptysis.

The Indian journal of chest diseases &amp; allied sciences
2015

[Pediatric lung lesions: a clinicopathological study of 215 cases].

Zhonghua bing li xue za zhi = Chinese journal of pathology
2016

Can congenital pulmonary airway malformation be distinguished from Type I pleuropulmonary blastoma based on clinical and radiological features?

Journal of pediatric surgery
2015

Congenital cystic adenomatoid malformation type I.

Autopsy &amp; case reports
2015

Extralobar sequestration of lung associated with congenital diaphragmatic hernia and malrotation of gut.

Lung India : official organ of Indian Chest Society
2015

Congenital pulmonary airway malformation: A report of two cases.

World journal of clinical cases
2015

[Congenital pulmonary airway malformation of lung in fetus: a clinicopathological analysis].

Zhonghua bing li xue za zhi = Chinese journal of pathology
2015

Unusual signal intensity of congenital pulmonary airway malformation on fetal magnetic resonance imaging.

Pediatric radiology
2015

Diffuse capillary malformation in association with fetal pleural effusion: report of five patients.

Pediatric dermatology
2015

Extracellular matrix pleural tent for persistent air leak and air space in a child after upper lobectomy.

The Annals of thoracic surgery
Ver todos os 253 no EuropePMC

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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.

  1. Type 1 Congenital Pulmonary Airway Malformation: Diagnostic Accuracy of Radiological Features.
    Pediatric pulmonology· 2026· PMID 41757581mais citado
  2. Surgical Management of Congenital Lung Malformations in Children-A Single-Center Analysis of 25&#x2009;Years of Experience.
    The clinical respiratory journal· 2026· PMID 41730664mais citado
  3. Challenges with Congenital Lung Cysts: When to Consider DICER1 Testing? A Narrative Review.
    Acta medica portuguesa· 2026· PMID 41719532mais citado
  4. Perioperative Care for Pediatric Patients Undergoing Lung Surgery: Retrospective Single Center Review.
    Paediatric anaesthesia· 2026· PMID 41670069mais citado
  5. Spontaneous pneumothorax as the initial presentation of congenital pulmonary airway malformation in a teenager without prior symptoms.
    Radiology case reports· 2026· PMID 41323183mais citado
  6. Diagnostic Challenges in a Hybrid Congenital Pulmonary Airway Malformation: A Case Report.
    Cureus· 2026· PMID 41909389recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:280832(Orphanet)
  2. MONDO:0017249(MONDO)
  3. GARD:21094(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q55786936(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

Malformação congênita das vias aéreas pulmonares, tipo 1
Compêndio · Raras BR

Malformação congênita das vias aéreas pulmonares, tipo 1

ORPHA:280832 · MONDO:0017249
CID-10
Q33.0 · Pulmão cístico congênito
CID-11
Início
Antenatal, Neonatal
MedGen
UMLS
C5437763
EuropePMC
Wikidata
Papers 10a
Evidência
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