Diagnostic workup of childhood interstitial lung disease

Nathan, Nadia; Griese, Matthias; Michel, Katarzyna; Carlens, Julia; Gilbert, Carlee; Emiralioğlu, Nagehan; Torrent‐Vernetta, Alba; Marczak, Honorata; Willemse, Brigitte; Delestrain, Céline; Epaud, Ralph

doi:10.1183/16000617.0188-2022

Cited by 29 publications

(28 citation statements)

References 115 publications

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“…However, it may not provide a definite diagnosis in a number of cases and needs to be correlated with clinical, imaging and genetic studies, leading to a final multidisciplinary diagnosis. 7 Recent advances in molecular genetics have prompted expert biopsy in all cases. Moreover, when a genetic variation is identified, its interpretation in terms of pathogenicity and prognosis may be challenging and the value of an investigation takes into account not only its ability to assess a definite diagnosis but also its impact in terms of management.…”

Section: Resultsmentioning

confidence: 99%

Lung biopsies in infants and children in critical care situation

Levy,

Bitton,

Sileo

et al. 2024

Pediatric Pulmonology

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IntroductionLung biopsy is considered as the last step investigation for diagnosing lung diseases; however, its indication must be carefully balanced with its invasiveness. The present study aims to evaluate the diagnostic yield of lung biopsy in critically ill patients hospitalized in the pediatric intensive care unit (ICU).Material and MethodsChildren who underwent a lung biopsy in the ICU between 1995 and 2022 were included. Biopsies performed in the operating room and post‐mortem biopsies were excluded.ResultsThirty‐one patients were included, with a median age of 18 days (2 days to 10.8 years); 21 (67.7%) were newborns. All patients required invasive mechanical ventilation, 26 (89.7%) had a pulmonary hypertension, and 22 (70.9%) were placed under extracorporeal membrane oxygenation (ECMO). The lung biopsy led to a diagnosis in 81% of the patients. The diagnostic reliability seemed to decrease with age (95% in newborns, 71% in 1 month to 2 years and 0/3 patients aged over 2 years old). Diffuse developmental disorders of the lung accounted for 15 (49%) patients, primarily alveolar capillary dysplasia, followed by surfactant disorders in 5 (16%) patients. Complications occurred in 9/31 (29%) patients including eight under ECMO, with massive hemorrhages in seven cases.Discussion and ConclusionIn critical situations, lung biopsy should be performed. Lung biopsy is a reliable diagnostic procedure for neonates in critical situation when a diffuse developmental disorder of the lung is suspected. The majority of lung biopsy complication was associated with the use of ECMO. The prospective evaluation of the complications of such procedure under ECMO, and particularly over 10 days of ECMO and in children over 2‐year‐old remains to be ascertained.

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Section: Resultsmentioning

confidence: 99%

Lung biopsies in infants and children in critical care situation

Levy,

Bitton,

Sileo

et al. 2024

Pediatric Pulmonology

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“…Both primary and congenital forms of PAP are considered as chILD. 10 Autoimmune PAP accounts for 85%−90% of all cases of PAP. 8 PAP can also be secondary to a variety of conditions, including chronic infection (HIV), hematologic disorders (malignancy, myelodysplasia, aplastic anemia), immunodeficiency, chemical exposures, and rheumatologic conditions.…”

Section: Challenge Point 3bmentioning

confidence: 99%

When lungs and weights tell different stories

Godse,

Brumer,

Kizilirmak

et al. 2024

Pediatric Pulmonology

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Abnormalities in infant chest radiography can represent wide differential diagnoses depending on the age of presentation, gestational age, and clinical scenario. 1 Often, patients will present with signs of respiratory distress or hypoxemia. However, in this case, we describe a previously healthy 6-month-old infant presenting with failure to thrive (FTT), emesis, jaundice, and an abnormal chest radiograph (CXR) without overt signs of respiratory distress. | CASE PRESENTATIONThe pulmonology service was consulted to evaluate abnormal radiographic findings in a 6-month-old female admitted for progressive weight loss.

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“…[4][5][6] Many diverse causes of chILD are known, whereas mechanistic understanding remains unknown for many cases. [6][7][8] The investigation of suspected chILD cases requires analysis of combinations of clinical presentation, imaging, lung biopsy pathology, and genetic testing. Disease severity at initial presentation varies widely both within and between disorders from birth to adolescence, encompassing a range of respiratory symptoms such as cough, dyspnea, exercise intolerance, recurrent lung infections, hemoptysis, and respiratory failure.…”

Section: Introductionmentioning

confidence: 99%

The U.S. National Registry for Childhood Interstitial and Diffuse Lung Disease: Report of Study Design and Initial Enrollment Cohort

Nevel

Deutsch

Craven

et al. 2023

Preprint

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Childhood interstitial and diffuse lung disease (chILD) encompasses a broad spectrum of rare disorders. The Children’s Interstitial and Diffuse Lung Disease Research Network (chILDRN) established a prospective registry to advance knowledge regarding etiology, phenotype, natural history, and management of these disorders. This longitudinal, observational, multicenter registry utilizes single-IRB reliance agreements, with participation from 25 chILDRN centers across the U.S. Clinical data are collected and managed using the Research Electronic Data Capture (REDCap) electronic data platform. We report the study design and some elements of the initial Registry enrollment cohort, which includes 683 subjects with a broad range of chILD diagnoses. The most common diagnosis reported was neuroendocrine cell hyperplasia of infancy (NEHI), with 155 (23%) subjects. Components of underlying disease biology were identified by enrolling sites, with cohorts of interstitial fibrosis, immune dysregulation, and airway disease being most commonly reported. Prominent morbidities affecting enrolled children included home supplemental oxygen use (63%) and failure to thrive (46%). This Registry is the largest longitudinal chILD cohort in the U.S. to date, providing a powerful framework for collaborating centers committed to improving the understanding and treatment of these rare disorders.

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Diagnostic workup of childhood interstitial lung disease

Cited by 29 publications

References 115 publications

Lung biopsies in infants and children in critical care situation

Lung biopsies in infants and children in critical care situation

When lungs and weights tell different stories

The U.S. National Registry for Childhood Interstitial and Diffuse Lung Disease: Report of Study Design and Initial Enrollment Cohort

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