A national registry for childhood interstitial and diffuse lung diseases in the United States.

Young, Lisa R.; Nevel, Rebekah J.; Casey, Alicia; Fishman, Martha P.; Welsh, Sebastian K.; Liptzin, Deborah R.; Hagood, James S.; Kurland, Geoffrey; Craven, Daniel; Fiorino, Elizabeth K.; Taylor, Jane B.; Goldfarb, Samuel; Conrad, Carol; Kuo, Christin S.; Deutsch, Gail H.; De, Aliva; Powers, Michael R.; Deterding, Robin R.

doi:10.1183/13993003.congress-2018.oa3786

Cited by 6 publications

(6 citation statements)

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“…3,10,11 Spirometric data are limited but suggest continued lung growth despite restriction. This report is limited to one center; therefore, multisite collaboration and expanded use of the national chILD registry 39,40 are needed to improve our ability to diagnose pediatric fibrosis and to evaluate potential treatment risks and benefits.…”

Section: Novel Antifibrotic Therapies Have Been Recently Approved Inmentioning

confidence: 99%

Ground glass and fibrotic change in children with surfactant protein C dysfunction mutations

DeBoer

Liptzin

Humphries

et al. 2021

Pediatric Pulmonology

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Introduction: Therapeutics exist to treat fibrotic lung disease in adults, but these have not been investigated in children. Defining biomarkers for pediatric fibrotic lung disease in children is crucial for clinical trials. Children with surfactant protein C (SFTPC) dysfunction mutations develop fibrotic lung disease over time. We evaluated chest computed tomography (CT) changes over time in children with SFTPC dysfunction mutations.Methods: We performed an institutional review board-approved retrospective review of children with SFTPC dysfunction mutations. We collected demographic and clinical information. Chest CT scans were evaluated using visual and computerized scores. Chest CT scores and pulmonary function tests were reviewed.Results: Eleven children were included. All children presented in infancy and four children suffered from respiratory failure requiring mechanical ventilation. Those who performed pulmonary function tests had stable forced vital capacities over time by percent predicted, but increased forced vital capacity in liters. CT findings evolved over time in most patients with earlier CT scans demonstrating ground glass opacities and later CT scans with more fibrotic features. In a pilot analysis, data-driven textural analysis software identified fibrotic features in children with SFTPC dysfunction that increased over time and correlated with visual CT scores.Discussion: We describe 11 children with SFTPC dysfunction mutations. Increases in forced vital capacity over time suggest that these children experience lung growth and that therapeutic intervention may maximize lung growth. Ground glass opacities are the primary early imaging findings while fibrotic features dominate later.CT findings suggest the development of and increases in fibrotic features that may serve as potential biomarkers for antifibrotic therapeutic trials.

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Section: Novel Antifibrotic Therapies Have Been Recently Approved Inmentioning

confidence: 99%

Ground glass and fibrotic change in children with surfactant protein C dysfunction mutations

DeBoer

Liptzin

Humphries

et al. 2021

Pediatric Pulmonology

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“…Data is collected from clinical encounters at the entering center. Preliminary results have been reported in abstract form at international society conferences including the American Thoracic Society 16 and the European Respiratory Society 21 conferences. To our knowledge this registry represents the largest collection of chILD patients in the world.…”

Section: Current Status Of Childrnmentioning

confidence: 99%

“…Diagnostic codes have been developed that allow for improved identification of patients for research studies 15 . Standardized approaches to the chILD evaluation process for infants through clinical guidelines were developed and published with broad multidisciplinary education initiatives to disseminate the content 16 . The importance of genetic diagnosis, particularly in the surfactant dysfunction diseases, 15,17‐20 imaging protocols, and surgical techniques with improved outcomes using video‐assisted thoracoscopic biopsy were included 17 .…”

Section: History Of Child Childrn and The Child Foundationmentioning

confidence: 99%

Overview of the ChILD Research Network: A roadmap for progress and success in defining rare diseases

Casey

Deterding

Young

et al. 2020

Pediatric Pulmonology

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Children's interstitial and diffuse lung diseases are a diverse group of rare lung disorders that present in childhood with diffuse pulmonary infiltrates and respiratory signs and symptoms. Children with these disorders face high morbidity and mortality and their families must cope with overwhelming uncertainty. Physicians caring for these patients are challenged by a paucity of directed therapies, or even understanding of natural history. Through the establishment of the Children's Interstitial Lung Disease Foundation Research Network and the Children's Interstitial Lung Disease Foundation significant progress has been made through collaboration and research. This review outlines the past and current successes in the new and rapidly growing field of Children's Interstitial and Diffuse Lung Disease. K E Y W O R D S interstitial lung disease (ILD)

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“…Rare lung diseases in children comprise a variety of conditions that include cystic fibrosis, primary ciliary dyskinesia, congenital malformations of the lung, pulmonary hypertension, abnormal ventilatory drive and childhood interstitial lung diseases (chILDs). The latter is, by itself, a heterogeneous group of very rare lung diseases with an overall estimated prevalence of 1.6-46 per million depending on the few available reports [1][2][3][4][5][6][7][8][9][10][11][12][13]. Thus, they appear to be around 10 times rarer than in adults, covering different aetiologies with some of them being extremely severe [14].…”

Section: Introductionmentioning

confidence: 99%

Diagnostic workup of childhood interstitial lung disease

Nathan

Griese²,

Michel³

et al. 2023

Eur Respir Rev

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Childhood interstitial lung diseases (chILDs) are rare and heterogeneous diseases with significant morbidity and mortality. An accurate and quick aetiological diagnosis may contribute to better management and personalised treatment. On behalf of the European Respiratory Society Clinical Research Collaboration for chILD (ERS CRC chILD-EU), this review summarises the roles of the general paediatrician, paediatric pulmonologists and expert centres in the complex diagnostic workup. Each patient's aetiological chILD diagnosis must be reached without prolonged delays in a stepwise approach from medical history, signs, symptoms, clinical tests and imaging, to advanced genetic analysis and specialised procedures including bronchoalveolar lavage and biopsy, if necessary. Finally, as medical progress is fast, the need to revisit a diagnosis of “undefined chILD” is stressed.

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A national registry for childhood interstitial and diffuse lung diseases in the United States.

Cited by 6 publications

References 0 publications

Ground glass and fibrotic change in children with surfactant protein C dysfunction mutations

Ground glass and fibrotic change in children with surfactant protein C dysfunction mutations

Overview of the ChILD Research Network: A roadmap for progress and success in defining rare diseases

Diagnostic workup of childhood interstitial lung disease

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