A hiperplasia celular neuroendócrina da infância (NCHI) é uma forma pediátrica e não letal de doença pulmonar intersticial (DPI) caracterizada por taquipneia sem insuficiência respiratória.
Introdução
O que você precisa saber de cara
Visão geral
A hiperplasia celular neuroendócrina da infância (NCHI), classificada internacionalmente pelo código MONDO:0016322 e associada ao CID-10 J84.8, é uma forma pediátrica e não letal de doença pulmonar intersticial (DPI), caracterizada clinicamente por taquipneia sem insuficiência respiratória.[1]
O início dos sinais e manifestações ocorre tipicamente no período neonatal ou durante a infância. Trata-se de uma condição rara cuja prevalência exata é atualmente desconhecida na literatura.[1]
Sinais e sintomas
A apresentação clínica da hiperplasia celular neuroendócrina da infância é marcada fundamentalmente pela presença de taquipneia sem evolução para insuficiência respiratória aguda.[1]
Causas genéticas
Diagnóstico
Conteúdo informativo gerado e mantido automaticamente a partir de fontes oficiais (Orphanet, HPO, OMIM, SUS). Não substitui avaliação médica.
A **hiperplasia celular neuroendócrina da infância** (também chamada de **NEHI** ou **NCHI**) é uma doença respiratória rara, pediátrica e não letal. O principal sinal percebido pelas famílias é a **taquipneia** (uma respiração acelerada e rápida), que costuma começar nos primeiros meses de vida sem evoluir para insuficiência respiratória grave. Não existe um gene causal catalogado para o quadro e a condição não consta na lista oficial de Protocolos Clínicos e Diretrizes Terapêuticas (PCDT) do SUS. O cuidado clínico é feito com acompanhamento médico e exames de imagem, existindo pesquisas internacionais ativas avaliando opções terapêuticas.
A hiperplasia celular neuroendócrina da infância (NCHI) é uma forma pediátrica e não letal de doença pulmonar intersticial (DPI) caracterizada por taquipneia sem insuficiência respiratória.
O que está sendo pesquisado
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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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
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
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 — Hiperplasia celular neuroendócrina da infância
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Outros ensaios clínicos
Publicações mais relevantes
Characteristics of Pediatric Patients With Neuroendocrine Cell Hyperplasia at a Tertiary Care Center in a High-Altitude City.
Neuroendocrine cell hyperplasia of infancy (NEHI) is a rare and diffuse lung disease in children that presents significant diagnostic challenges worldwide, especially in Colombia, where comprehensive studies are limited. This retrospective review examines 10 clinical cases of NEHI diagnosed at Fundación Santa Fe de Bogotá between 2013 and 2023. The study reviewed 10 cases, comprising 6 males and 4 females. Patients presented with a median age of 9 months (range: 5-20 months) and commonly exhibited symptoms such as low oxygen saturation, tachypnea (100%), retractions in half of the cases. Chest CT scans revealed ground-glass opacities and bronchial thickening, while polysomnography demonstrated baseline desaturation (median minimum oxygen saturation: 74%), with central apneas observed in a subset of patients. Treatment strategies included supplemental oxygen, inhaled steroids, leukotriene inhibitors, and azithromycin. This study emphasizes the urgent need for a better understanding and management of NEHI, particularly in high-altitude regions such as Bogotá, highlighting the diagnostic challenges and clinical implications for affected children.
Management and Long-Term Outcomes of Persistent Tachypnea of Infancy/Neuroendocrine Cell Hyperplasia of Infancy: A European Multicenter Retrospective Study.
Persistent tachypnea of infancy (PTI), also known as neuroendocrine cell hyperplasia of infancy (NEHI), represents one of the most common childhood interstitial lung diseases. Despite its frequency, standardized management protocol is lacking, and long-term outcome data remain limited. What treatment is used for patients with PTI/NEHI, how does clinical management vary across European countries, and what are the long-term outcomes in affected patients? This was a European, multicenter, retrospective, observational study. Clinical characteristics, therapeutic interventions, and long-term follow-up data were collected and analyzed. Treatment strategies were compared among countries that contributed at least 10 patients. A total of 378 children (63.5% male, 240/378) from 73 centers across 17 countries were enrolled, with a median age at diagnosis of 9 months (IQR, 6-13 months). Therapeutic interventions included oxygen supplementation (75.9%, 287/378), inhaled bronchodilators and/or inhaled glucocorticoids (62.4%, 236/378), systemic glucocorticoids (37.0%, 140/378), and nutritional support (33.8%, 128/378). Of the children who received oxygen therapy, 53.6% (154/287) were reported to have been weaned off, with a median age at weaning of 24 months (IQR, 16-36 months). Marked variability in treatment practices was observed across participating countries (p<0.05). Longitudinal data were available for 48.9% of patients (185/378) with a median follow-up of 19 months (IQR, 16-57 months). The proportion of symptomatic children declined over time, with the most marked improvement observed at 4 years of age. Resolution of imaging and pulmonary function abnormalities was also reported; however, a subset of patients continued to demonstrate persistent hypoxemia, crackles, exercise intolerance, as well as abnormal imaging and pulmonary function into adolescence. Significant differences in treatment strategies for PTI/NEHI were observed across European countries, highlighting the need for evidence-based guidelines. While long-term prognosis is generally favorable, residual symptoms remain in some patients, warranting continued follow-up.
Molecular Investigation in Early-Onset Interstitial Lung Disease: Results From 699 Unrelated Patients.
Interstitial lung diseases (ILDs) are rare and severe respiratory conditions that may ultimately result in pulmonary fibrosis (PF). The objective of this study was to present the results of molecular diagnosis of early-onset ILD (from neonates to young adults < 50 years) in a reference genetic diagnostic laboratory. DNAs from 699 index cases and 190 relatives were studied over 6 years by Sanger and/or targeted next generation sequencing of surfactant-related genes and other genes involved in early-onset ILD. Pathogenic/likely pathogenic variants were evidenced for 62 patients (8.9%). The genes most frequently involved were SFTPA2 (13/62), followed by ABCA3 (12/62) and SFTPC (10/62). Among index cases for whom precise clinical data were available (n = 542), indications associated with a high molecular diagnostic yield were pulmonary alveolar proteinosis (61.5%, 8/13; p < 0.0007); family history of ILD/PF and lung cancer (36.8%, 7/19; p = 0.0132) and newborns > 32 weeks gestation with neonatal respiratory distress (14.8%, 9/61). The proportion of positive molecular investigations culminated in two age groups over the lifespan: 23.3% (7/30) in children aged 1 to 10 years, and 18.3% (15/82) in adults aged 30 to 40 years. Over the 6-year period, 190 relatives were subjected to testing in order to perform segregation studies (n = 123) and/or predictive testing (n = 79). This study highlights the specific patient's characteristics associated with a high or low molecular diagnostic yield in clinical practice. Furthermore, it emphasises the importance of establishing a molecular diagnosis in order to provide genetic counselling to the family.
D e novo SRRM2 variants in neuroendocrine cell hyperplasia of infancy and persistent tachypnoea of infancy.
Neuroendocrine cell hyperplasia of infancy (NEHI), also called persistent tachypnoea of infancy (PTI), is a major cause of childhood interstitial lung disease. This rare lung disease is responsible for respiratory insufficiency in the first years of life. Non-pulmonary symptoms have also been reported, including failure to thrive and developmental delay. The pathophysiology of NEHI/PTI remains unclear. To identify candidate genes of NEHI/PTI, we performed whole-genome sequencing (WGS) and whole-exome sequencing (WES) in a large cohort of deeply phenotyped patients. Trio WGS was performed (n=21) to identify a candidate gene. Following identification of a candidate gene, WES was performed to screen this gene in the remaining NEHI/PTI patients (n=50). Four de novo loss-of-function (LoF) variants of SRRM2 were identified in four out of 71 NEHI/PTI patients with typical pulmonary presentation. Serine/arginine repetitive matrix protein 2 (SRRM2) is involved in mRNA splicing, and SRRM2 LoF variants have recently been reported in patients with neurodevelopmental delay (NDD). All four NEHI/PTI patients also had mild NDD. The prevalence of SRRM2 LoF variants in our cohort (5.6%, 95% CI 1.6-13.8%) is 20-100 times higher than reported in patients with NDD without lung disease, therefore the phenotypic spectrum of SRRM2-associated disease should be extended to NEHI/PTI. This study identifies SRRM2-related disorder as a monogenic cause of NEHI/PTI. These results suggest that NEHI/PTI patients should be evaluated by a paediatric neurologist and that SRRM2 sequencing should be included in every NEHI/PTI workup.
SRRM2 and neuroendocrine cell hyperplasia of infancy: connecting neurodevelopment to the lungs.
Publicações recentes
Characteristics of Pediatric Patients With Neuroendocrine Cell Hyperplasia at a Tertiary Care Center in a High-Altitude City.
Management and Long-Term Outcomes of Persistent Tachypnea of Infancy or Neuroendocrine Cell Hyperplasia of Infancy: A European Multicenter Retrospective Study.
SRRM2 and neuroendocrine cell hyperplasia of infancy: connecting neurodevelopment to the lungs.
Persistent tachypnoea of infancy and neuroendocrine cell hyperplasia of infancy: from systematic review to future directions.
D e novo SRRM2 variants in neuroendocrine cell hyperplasia of infancy and persistent tachypnoea of infancy.
📚 EuropePMC50 artigos no totalmostrando 77
Characteristics of Pediatric Patients With Neuroendocrine Cell Hyperplasia at a Tertiary Care Center in a High-Altitude City.
Pediatric pulmonologyManagement and Long-Term Outcomes of Persistent Tachypnea of Infancy/Neuroendocrine Cell Hyperplasia of Infancy: A European Multicenter Retrospective Study.
ChestSRRM2 and neuroendocrine cell hyperplasia of infancy: connecting neurodevelopment to the lungs.
The European respiratory journalDeciphering the pathogenicity of three NKX2-1 variants in ultra-severe forms of childhood interstitial lung disease.
PloS onePersistent tachypnoea of infancy and neuroendocrine cell hyperplasia of infancy: from systematic review to future directions.
ERJ open researchMolecular Investigation in Early-Onset Interstitial Lung Disease: Results From 699 Unrelated Patients.
Respirology (Carlton, Vic.)D e novo SRRM2 variants in neuroendocrine cell hyperplasia of infancy and persistent tachypnoea of infancy.
The European respiratory journal[Neuroendocrine cell hyperplasia of infancy].
Ugeskrift for laegerNeuroendocrine cell hyperplasia of infancy: Description of 6 cases.
Anales de pediatriaPursuing Precision for a Persistent Issue in the Diagnosis of Neuroendocrine Cell Hyperplasia of Infancy.
ChestChildhood Interstitial Lung Diseases: Lessons Learned From 15-Year Observation at a Polish Referral Center.
Pediatric pulmonologyA non-resolving cough in a 41-year-old woman: a case of familial pulmonary fibrosis.
Breathe (Sheffield, England)Neuroendocrine cell hyperplasia of infancy: A noteworthy Japanese case report.
Pediatrics international : official journal of the Japan Pediatric SocietyDiagnostic Evaluation and Clinical Findings in Children With Persistent Tachypnea of Infancy/Neuroendocrine Cell Hyperplasia of Infancy: A European Multicenter Retrospective Study.
ChestChildhood interstitial lung disease survivors in adulthood: a European collaborative study.
The European respiratory journalXe Ventilation and Gas-Exchange MRI Abnormalities in Children with Neuroendocrine Cell Hyperplasia of Infancy (NEHI).
Pediatric pulmonologyIt Is Time to Get to Know the Neuroendocrine Cell Hyperplasia of Infancy.
The clinical respiratory journalEpidemiology of childhood interstitial lung disease in France: the RespiRare cohort.
ThoraxInterstitial lung disease in the newborn.
Journal of perinatology : official journal of the California Perinatal AssociationSerum biomarkers in neuroendocrine cell hyperplasia of infancy.
Pediatric pulmonologyERS statement on transition of care in childhood interstitial lung diseases.
The European respiratory journalFREnch National Cohort of neuroendocrine cell Hyperplasia of Infancy (FRENCHI): Long-term consequences and risk factors of low body mass index.
Respiratory medicine and researchThe original histopathologic description of neuroendocrine cell hyperplasia of infancy is not applicable to every patient with the disease.
Pediatric pulmonologyPersistent tachypnea of infancy, neuroendocrine cell hyperplasia of infancy, and pulmonary interstitial glycogenosis: "A3-Specific conditions of undefined etiology".
Pediatric pulmonologyCSF2RB mutation-related hereditary pulmonary alveolar proteinosis: the "long and winding road" into adulthood.
ERJ open researchThe significance of multidisciplinary team meetings in diagnosing and managing childhood interstitial lung disease within the RespiRare network.
Pediatric pulmonologyThe US national registry for childhood interstitial and diffuse lung disease: Report of study design and initial enrollment cohort.
Pediatric pulmonologyChildren's interstitial lung disease: Multidetector computed tomography patterns and correlations between imaging and histopathology.
European journal of radiologyCOVID-19 in patients with persistent tachypnea of infancy.
Pediatric pulmonologyLong-term evolution of neuroendocrine cell hyperplasia of infancy: the FRENCHI findings.
European journal of pediatricsInterstitial Lung Disease in Children: "Specific Conditions of Undefined Etiology" Becoming Clearer.
Children (Basel, Switzerland)Pulmonary function in children with persistent tachypnea of infancy.
Pediatric pulmonologyCase report: Rare lung disease of infancy diagnosed with the assistance of a home pulse oximetry baby monitor.
Frontiers in pediatricsA Rare Case Report of NEHI in a Preterm Infant with Review of the Literature.
Case reports in pediatricsNeuroendocrine cell hyperplasia of infancy diagnosed by imaging techniques.
Archivos de bronconeumologiaNeuroendocrine cell hyperplasia of infancy: Feasibility of objective evaluation with quantitative CT.
Clinical imagingFrench national cohort of neuroendocrine cell hyperplasia of infancy (FRENCHI) study: diagnosis and initial management.
European journal of pediatricsThe elusive pulmonary neuroendocrine cell: How rare diseases may help solving common diseases.
Developmental cellExcess neuropeptides in lung signal through endothelial cells to impair gas exchange.
Developmental cellIncidence and Prevalence of Children's Diffuse Lung Disease in Spain.
Archivos de bronconeumologiaCongenital interstitial lung diseases: What the anesthesiologist needs to know.
Paediatric anaesthesiaNeuroendocrine Cell Hyperplasia of Infancy (NEHI)/Hiperplasia de Celulas Neuroendocrina de la Infancia (NEHI).
American journal of respiratory and critical care medicineThe improved clinical course of persistent tachypnea of infancy with inhaled bronchodilators and corticosteroids.
Pediatric pulmonologyThe Use of Infant Pulmonary Function Tests in the Diagnosis of Neuroendocrine Cell Hyperplasia of Infancy.
ChestClinical, functional, and computed tomography findings in a cohort of patients with neuroendocrine cell hyperplasia of infancy.
Pediatric pulmonologyUpregulation of neuropeptides and obstructive airway disorder in infancy: A review with focus on post-RSV wheezing and NEHI.
Pediatric pulmonologyChildren's Interstitial and Diffuse Lung Diseases (ChILD) in 2020.
Children (Basel, Switzerland)Interstitial lung disease in infancy.
Early human developmentPersistent tachypnea of infancy: Follow up at school age.
Pediatric pulmonologyVariation in the bombesin staining of pulmonary neuroendocrine cells in pediatric pulmonary disorders-A useful marker for airway maturity.
Pediatric pulmonology[Clinical features of neuroendocrine cell hyperplasia of infancy].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsNeuroendocrine Cell Hyperplasia of Infancy. Clinical Score and Comorbidities.
Annals of the American Thoracic SocietyLung ultrasound-a new diagnostic modality in persistent tachypnea of infancy.
Pediatric pulmonologyInfrequent and Potentially Missed Cause of Hypoxemia in an Infant.
CureusNeuroendocrine cell hyperplasia of infancy: An unusual cause of unresolving tachypnea in infancy.
Pediatrics and neonatologyPulmonary Aptamer Signatures in Children's Interstitial and Diffuse Lung Disease.
American journal of respiratory and critical care medicineGround-glass burden as a biomarker in neuroendocrine cell hyperplasia of infancy.
Pediatric pulmonologyEarly onset children's interstitial lung diseases: Discrete entities or manifestations of pulmonary dysmaturity?
Paediatric respiratory reviewsLung and airway shape in neuroendocrine cell hyperplasia of infancy.
Pediatric radiologySleeping chILD: Neuroendocrine cell hyperplasia of infancy and polysomnography.
Pediatric pulmonologyGrowth trajectories and oxygen use in neuroendocrine cell hyperplasia of infancy.
Pediatric pulmonologyRole of High-Resolution Chest Computed Tomography in a Child with Persistent Tachypnoea and Intercostal Retractions: A Case Report of Neuroendocrine Cell Hyperplasia.
International journal of environmental research and public healthFOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability?
American journal of medical genetics. Part AInterstitial lung disease in newborns.
Seminars in fetal & neonatal medicineCurrent Update on Interstitial Lung Disease of Infancy: New Classification System, Diagnostic Evaluation, Imaging Algorithms, Imaging Findings, and Prognosis.
Radiologic clinics of North AmericaNeuroendocrine cell hyperplasia of infancy: an unusual cause of hypoxemia in children.
Italian journal of pediatricsDiffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia and Neuroendocrine Hyperplasia of Infancy.
Clinics in chest medicineAnything that Looks Like a Neuroendocrine Cell Hyperplasia of Infancy Is Not Necessarily a Neuroendocrine Cell Hyperplasia of Infancy.
ChestPersistent Lung Disease in Adults with NKX2.1 Mutation and Familial Neuroendocrine Cell Hyperplasia of Infancy.
Annals of the American Thoracic SocietyThe role of high-resolution chest CT in the diagnosis of neuroendocrine cell hyperplasia of infancy - A rare form of pediatric interstitial lung disease.
Respiratory medicine case reportsExacerbations in neuroendocrine cell hyperplasia of infancy are characterized by increased air trapping.
Pediatric pulmonologyRare Becomes More Common: Recognizing Neuroendocrine Cell Hyperplasia of Infancy in Everyday Pulmonary Consultations.
Annals of the American Thoracic SocietyPersistent Tachypnea of Infancy. Usual and Aberrant.
American journal of respiratory and critical care medicineAugmented 5-HT Secretion in Pulmonary Neuroepithelial Bodies from PHD1 Null Mice.
Advances in experimental medicine and biologyRare Lung Diseases: Interstitial Lung Diseases and Lung Manifestations of Rheumatological Diseases.
Indian journal of pediatrics[Modern Views on Children's Interstitial Lung Disease].
Vestnik Rossiiskoi akademii meditsinskikh naukBombesin staining in neuroendocrine cell hyperplasia of infancy (NEHI) and other childhood interstitial lung diseases (chILD).
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Hiperplasia celular neuroendócrina da infância e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Ainda não achamos doenças com sintomas parecidos o suficiente.
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
É uma forma pediátrica não letal de doença pulmonar intersticial. A condição é caracterizada pela ocorrência de respiração rápida (taquipneia) sem levar à insuficiência respiratória.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
3 fontes citadas no texto · 6 publicações do grafo RarasNet (PubMed) · 4 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
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. (2026). Hiperplasia celular neuroendócrina da infância. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/hiperplasia-celular-neuroendocrina-da-infancia
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Hiperplasia celular neuroendócrina da infância
📋 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
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Dado público estruturado
- fonte: Wikidata
- Moléculas estudadas na doença
- fonte: OpenTargets
- Ensaios clínicos
- fonte: ClinicalTrials.gov
