Familial Neuroendocrine Cell Hyperplasia of Infancy.

Popler, Jonathan; Gower, WA; Mogayzel, PJ; Nogee, LM; Dishop, MK; Hay, TC; Deterding, RR

doi:10.1164/ajrccm-conference.2009.179.1_meetingabstracts.a5965

Cited by 23 publications

(33 citation statements)

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“…(1,6,14) Similarly, all infants in the present series were born full term and most were male; however, 50% presented symptoms in the neonatal period, showing an earlier onset of the disease in relation to other series. The early presentation of the illness observed in the present series suggests that a possible genetic cause is involved in its pathogenesis, since familial cases have been described in the literature.…”

Section: Discussionsupporting

confidence: 59%

Diagnostic criteria and follow-up in neuroendocrine cell hyperplasia of infancy: a case series

et al. 2013

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Objective: Neuroendocrine cell hyperplasia of infancy (NEHI) is a form of childhood interstitial lung disease characterized by tachypnea, retractions, crackles, and hypoxia. The aim of this study was to report and discuss the clinical, imaging, and histopathological findings in a series of NEHI cases at a tertiary pediatric hospital, with an emphasis on diagnostic criteria and clinical outcomes. Methods: Between 2003 and 2011, 12 full-term infants were diagnosed with NEHI, based on clinical and tomographic findings. Those infants were followed for 1-91 months. Four infants were biopsied, and the histopathological specimens were stained with bombesin antibody. Results: In this case series, symptoms appeared at birth in 6 infants and by 3 months of age in the remaining 6. In all of the cases, NEHI was associated with acute respiratory infection. The most common initial chest HRCT findings were ground-glass opacities that were in the middle lobe/lingula in 12 patients and in other medullary areas in 10. Air trapping was the second most common finding, being observed in 7 patients. Follow-up HRCT scans (performed in 10 patients) revealed normal results in 1 patient and improvement in 9. The biopsy findings were nonspecific, and the staining was positive for bombesin in all samples. Confirmation of NEHI was primarily based on clinical and tomographic findings. Symptoms improved during the follow-up period (mean, 41 months). A clinical cure was achieved in 4 patients. Conclusions: In this sample of patients, the diagnosis of NEHI was made on the basis of the clinical and tomographic findings, independent of the lung biopsy results. Most of the patients showed clinical improvement and persistent tomographic changes during the follow-up period, regardless of the initial severity of the disease or type of treatment.Keywords: Lung diseases, interstitial/diagnosis; Lung diseases, interstitial/treatment; Tomography, X-ray computed. ResumoObjetivo: A hiperplasia de células neuroendócrinas do lactente (HCNEL) é uma forma de doença pulmonar intersticial da infância caracterizada por taquipneia, retrações, estertores e hipóxia. O objetivo deste estudo foi descrever e discutir os achados clínicos, histopatológicos e de imagem em uma série de casos de HCNEL em um hospital pediátrico terciário, enfatizando critérios de diagnóstico e desfechos clínicos. Métodos: Entre 2003 e 2011, 12 lactentes nascidos a termo foram diagnosticados com HCNEL, com base em critérios clínico-tomográficos e acompanhados por 1-91 meses. Quatro lactentes foram submetidos a biopsia pulmonar, e as amostras histopatológicas foram coradas com anticorpo para bombesina. Resultados: Nesta série de casos, os sintomas surgiram ao nascimento em 6 lactentes e em até 3 meses de idade nos outros 6. Em todos os casos, HCNEL estava associada com infecção respiratória aguda. Os achados iniciais em TCAR de tórax foram opacidades em vidro fosco em lobo médio e língula, em 12 pacientes, e em outras regiões medulares, em 10. O aprisionamento aéreo foi o segundo achad...

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Section: Discussionsupporting

confidence: 59%

Diagnostic criteria and follow-up in neuroendocrine cell hyperplasia of infancy: a case series

et al. 2013

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“…The trend toward worsening or improvement, age at presentation, immunocompetence, and family history (i.e., whether there are other family members with adult ILD, chILD diagnoses, or a history of neonatal respiratory failure) are also important factors (10,(21)(22)(23)(24). Regarding disease severity, this judgment may be based upon the degree of symptoms (25) and gas exchange abnormalities, or the presence of echocardiographic evidence of pulmonary hypertension (26).…”

Section: Diagnostic Evaluation Overviewmentioning

confidence: 99%

An Official American Thoracic Society Clinical Practice Guideline: Classification, Evaluation, and Management of Childhood Interstitial Lung Disease in Infancy

Kurland¹,

Deterding²,

Hagood³

et al. 2013

Am J Respir Crit Care Med

395

499

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“…A limitation of our study is that it is unknown whether these findings in individuals heterozygous for the NKX2.1 mutation will be generalizable to the entire NEHI population or even other familial occurrences identified (17). Furthermore, it is unknown whether there may be genotype-phenotype correlations in NEHI that could explain the variation in the pattern of clinical findings and natural history of NEHI that is increasingly being observed.…”

Section: Brief Communicationmentioning

confidence: 93%

Persistent Lung Disease in Adults with NKX2.1 Mutation and Familial Neuroendocrine Cell Hyperplasia of Infancy

et al. 2016

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Rationale: Neuroendocrine cell hyperplasia of infancy (NEHI) is a diffuse lung disease that presents in infancy and improves during childhood. Long-term outcomes have not previously been described. In one familial cohort, we have reported that NEHI is associated with a heterozygous variant of NKX2.1/TTF1. Objectives: Our objective was to determine whether pulmonary abnormalities persist in adults with NEHI, to aid in elucidating the natural history of this disease.Methods: Four adult relatives with heterozygous NKX2.1 mutation and with clinical histories compatible with NEHI enrolled in a prospective study that included questionnaires, pulmonary function tests, and chest computed tomography scans. Measurements and Main Results:Mild radiologic abnormalities including mosaicism were seen in all four cases. Three individuals had obstruction on pulmonary function tests, two had marked air trapping, and three had symptomatic impairments with exercise intolerance.Conclusions: Although clinical improvement occurs over time, NEHI may result in lifelong pulmonary abnormalities in some cases. Further studies are required to better describe the natural history of this disease and would be facilitated by additional delineation of genetic mechanisms to enable improved case identification.

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Familial Neuroendocrine Cell Hyperplasia of Infancy.

Cited by 23 publications

References 0 publications

Diagnostic criteria and follow-up in neuroendocrine cell hyperplasia of infancy: a case series

Diagnostic criteria and follow-up in neuroendocrine cell hyperplasia of infancy: a case series

An Official American Thoracic Society Clinical Practice Guideline: Classification, Evaluation, and Management of Childhood Interstitial Lung Disease in Infancy

Persistent Lung Disease in Adults with NKX2.1 Mutation and Familial Neuroendocrine Cell Hyperplasia of Infancy

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