المؤلفون: Bush, Andrew, Gilbert, Carlee, Gregory, Jo, Nicholson, Andrew Gordon, Semple, Thomas, Zampoli, Marco, Pabary, Rishi

المصدر: Journal of the Pan African Thoracic Society; Vol. 2 No. 1 (2021); 18-32 ; 2694-4561

مصطلحات موضوعية: Alveolar capillary dysplasia, Congenital alveolar dysplasia, Hypersensitivity pneumonitis, Lipoid pneumonia, Neuroendocrine cell hyperplasia of infancy, Pulmonary alveolar proteinosis, Pulmonary interstitial glycogenosis, Surfactant protein gene

الوصف: Interstitial lung disease in children (chILD) is rare and encompasses more than 200 entities, with new especially genetic causes being discovered. Several classifications have been proposed, and there is considerable overlap with entities which present in adult life. Presentation may be shortly after birth with acute respiratory distress and in infancy and childhood either with a primary respiratory presentation or with systemic symptoms such as poor feeding and failure to thrive. Newborn acute presentations are usually due either to a mutation in one of the surfactant protein (Sp) genes or the alveolar capillary dysplasia (ACD)-congenital alveolar dysplasia (CAD) spectrum. The latter usually progress rapidly to extracorporeal membrane oxygenation, and early lung biopsy is advisable to prevent prolonged futile treatment being offered. Outside the newborn period, a staged protocol for investigation is proposed. This starts with a computed tomography scan, which confirms or otherwise the presence of chILD, and occasionally can lead to a specific diagnosis. In particular in settings where there is a high burden of infection, infective mimics of chILD need to be excluded. The next investigations aim to try to move from pattern recognition to specific diagnoses, both genetic and environmental. The speed of progression to lung biopsy will depend on the clinical state of the child, and the biopsy itself may suggest a hunt for a new underlying cause, such as immunodeficiency. Specific genetic causing chILD includes mutations in SpB and SpC and processing genes (thyroid transcription factor-1 [TTF-1] and adenosine triphosphate-binding cassette subfamily A) (the last three can present at any time in the life course); genes involved in Sp catabolism (granulocyte-macrophage colony factor receptor A and B genes), an increasing number implicated in the ACD-CAD spectrum, and other non-Sp related genes such as Filamin-A and integrin genes. Environmental causes are also important and vary across the world. Vaping has been ...

وصف الملف: application/pdf

العلاقة: https://www.ajol.info/index.php/jpats/article/view/239144/226008Test; https://www.ajol.info/index.php/jpats/article/view/239144Test

الإتاحة: https://www.ajol.info/index.php/jpats/article/view/239144Test

المؤلفون: Carlee Gilbert, Andrew G. Nicholson, Rishi Pabary, Marco Zampoli, Andrew Bush, Thomas Semple, Jo Gregory

المصدر: Journal of the Pan African Thoracic Society; Vol. 2 No. 1 (2021); 18-32

مصطلحات موضوعية: Alveolar capillary dysplasia, Pediatrics, medicine.medical_specialty, business.industry, Interstitial lung disease, Alveolar capillary dysplasia, Congenital alveolar dysplasia, Hypersensitivity pneumonitis, Lipoid pneumonia, Neuroendocrine cell hyperplasia of infancy, Pulmonary alveolar proteinosis, Pulmonary interstitial glycogenosis, Surfactant protein gene, Lung biopsy, Disease, Gene mutation, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, 030228 respiratory system, Failure to thrive, medicine, 030212 general & internal medicine, medicine.symptom, business, Pulmonary alveolar proteinosis, Immunodeficiency

الوصف: Interstitial lung disease in children (chILD) is rare and encompasses more than 200 entities, with new especially genetic causes being discovered. Several classifications have been proposed, and there is considerable overlap with entities which present in adult life. Presentation may be shortly after birth with acute respiratory distress and in infancy and childhood either with a primary respiratory presentation or with systemic symptoms such as poor feeding and failure to thrive. Newborn acute presentations are usually due either to a mutation in one of the surfactant protein (Sp) genes or the alveolar capillary dysplasia (ACD)-congenital alveolar dysplasia (CAD) spectrum. The latter usually progress rapidly to extracorporeal membrane oxygenation, and early lung biopsy is advisable to prevent prolonged futile treatment being offered. Outside the newborn period, a staged protocol for investigation is proposed. This starts with a computed tomography scan, which confirms or otherwise the presence of chILD, and occasionally can lead to a specific diagnosis. In particular in settings where there is a high burden of infection, infective mimics of chILD need to be excluded. The next investigations aim to try to move from pattern recognition to specific diagnoses, both genetic and environmental. The speed of progression to lung biopsy will depend on the clinical state of the child, and the biopsy itself may suggest a hunt for a new underlying cause, such as immunodeficiency. Specific genetic causing chILD includes mutations in SpB and SpC and processing genes (thyroid transcription factor-1 [TTF-1] and adenosine triphosphate-binding cassette subfamily A) (the last three can present at any time in the life course); genes involved in Sp catabolism (granulocyte-macrophage colony factor receptor A and B genes), an increasing number implicated in the ACD-CAD spectrum, and other non-Sp related genes such as Filamin-A and integrin genes. Environmental causes are also important and vary across the world. Vaping has been implicated as causing a large number of chILDs, and a vaping history is essential in any young person with an unusual respiratory illness. Medications, both prescribed and over-the-counter such as oily laxatives, are also causes of chILD. There are important conditions of unknown cause presenting in early childhood. Neuroendocrine cell hyperplasia of infancy (NEHI) and pulmonary interstitial glycogenosis generally have a good prognosis, and are probably best considered as part of a spectrum of pulmonary dysmaturity syndromes, in some of which underlying gene mutations have been detected, for example, TTF-1 for NEHI. Pulmonary alveolar proteinosis is an example of an umbrella description, which may present at any age, and has a number of underlying causes with different specific treatments, underscoring the need to move from pattern recognition to specific diagnoses. chILDs have important implications for adult physicians; there may be late as yet poorly described sequelae of the disease or its treatment in adult life; there may be genetic implications for the wider family; and there may be late chILD relapses. Smooth transition to adult services is essential for all chILD survivors, with pediatric and adult chest physicians working closely together.

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff948e9cf6bd6111eec2482cc42145c6Test
https://doi.org/10.25259/jpats_33_2020Test

المؤلفون: Bettina F. Loza, Arno van Heijst, Marc H. W. A. Wijnen, Maresa E. C. Jiskoot-Ermers, Monika G. Looijen-Salamon, T.A.J. Antonius

المصدر: American Journal of Perinatology, 5, e136-40
AJP Reports
American Journal of Perinatology Reports, Vol 05, Iss 02, Pp e136-e140 (2015)
American Journal of Perinatology, 5, 2, pp. e136-40

مصطلحات موضوعية: Alveolar capillary dysplasia, Pathology, medicine.medical_specialty, Heart disease, medicine.medical_treatment, pulmonary interstitial glycogenosis, Rare cancers Radboud Institute for Molecular Life Sciences [Radboudumc 9], lcsh:Gynecology and obstetrics, Article, Healthcare improvement science Radboud Institute for Health Sciences [Radboudumc 18], pulmonary hypertension, Extracorporeal membrane oxygenation, Medicine, lcsh:RG1-991, interstitial lung disease, Lung, business.industry, Other Research Radboud Institute for Health Sciences [Radboudumc 0], respiratory failure, Interstitial lung disease, Obstetrics and Gynecology, medicine.disease, Pulmonary hypertension, medicine.anatomical_structure, Respiratory failure, Bronchopulmonary dysplasia, Pediatrics, Perinatology and Child Health, ECMO, business

الوصف: Contains fulltext : 152397.pdf (Publisher’s version ) (Open Access) Pulmonary interstitial glycogenosis (PIG) is a rare interstitial lung disease in the newborns. We report on the clinical presentation and pathological findings of a full-term male infant with pulmonary hypertension requiring extracorporeal membrane oxygenation (ECMO). An open lung biopsy demonstrated interstitial changes resembling pulmonary interstitial glycogenosis as well as bronchopulmonary dysplasia (BPD), without convincing evidence of maturational arrest, infection, alveolar proteinosis, or alveolar capillary dysplasia. The boy was treated with glucocorticoids and, after a few days, was weaned from ECMO. A few hours later, the patient died due to acute severe pulmonary hypertension with acute right ventricular failure. The etiology and underlying pathogenic mechanisms of PIG are unknown. The clinical outcomes are quite varied. Deaths have been reported when PIG exists with abnormal lung development and pulmonary vascular growth and congenital heart disease. No mortality has been reported in PIG together with BPD in full-term infants. In this article, we reported on a full-term infant with interstitial changes resembling PIG and BPD who expired despite no convincing evidence of an anatomical maturational arrest or congenital heart disease.

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::966f784225693efdde7d5b5a31f24e62Test
https://doi.org/10.1055/s-0035-1551674Test

المؤلفون: Robin R. Deterding, Jonathan Popler, Burton Lesnick, Megan K. Dishop

المصدر: Chest. 142:774-780

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Alveolar capillary dysplasia, Pathology, medicine.medical_specialty, Pediatrics, Adolescent, Coding (therapy), World Health Organization, Critical Care and Intensive Care Medicine, International Classification of Diseases, medicine, Humans, Child, Lung, Heterogeneous group, business.industry, Interstitial lung disease, Surfactant dysfunction, Hyperplasia, medicine.disease, United States, medicine.anatomical_structure, Child, Preschool, Pulmonary interstitial glycogenosis, Lung Diseases, Interstitial, Cardiology and Cardiovascular Medicine, business

الوصف: The term "children's interstitial lung disease" (chILD) refers to a heterogeneous group of rare and diffuse lung diseases associated with significant morbidity and mortality. These disorders include neuroendocrine cell hyperplasia of infancy, pulmonary interstitial glycogenosis, surfactant dysfunction mutations, and alveolar capillary dysplasia with misalignment of pulmonary veins. Diagnosis can be challenging, which may lead to a delay in recognition and treatment of these disorders. Recently, International Classifications of Diseases, Ninth Revision codes have been added for several of the chILD disorders. The purpose of this article is to give an overview of the chILD disorders and appropriate diagnostic coding.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14d9b7b43c433fb392fd217c3e01a1b2Test
https://doi.org/10.1378/chest.12-0492Test

المؤلفون: Gail H. Deutsch, Lisa R. Young

المصدر: Pediatric radiology. 40(9)

مصطلحات موضوعية: Alveolar capillary dysplasia, Pathology, medicine.medical_specialty, business.industry, Interstitial lung disease, Infant, Newborn, Lung biopsy, medicine.disease, Glycogen Storage Disease, Diagnosis, Differential, Pediatrics, Perinatology and Child Health, medicine, Pulmonary interstitial glycogenosis, Humans, Radiology, Nuclear Medicine and imaging, Radiography, Thoracic, business, Lung Diseases, Interstitial, Tomography, X-Ray Computed, Lung, Neuroradiology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::015295cd628f5415548f90e51f34b76aTest
https://pubmed.ncbi.nlm.nih.gov/20440487Test