Literature DB >> 28363760

Interstitial lung disease in newborns.

Lawrence M Nogee1.   

Abstract

The term 'interstitial lung disease' (ILD) refers to a group of disorders involving both the airspaces and tissue compartments of the lung, and these disorders are more accurately termed diffuse lung diseases. Although rare, they are associated with significant morbidity and mortality, with the prognosis depending upon the specific diagnosis. The major categories of ILD in children that present in the neonatal period include developmental disorders, growth disorders, surfactant dysfunction disorders, and specific conditions of unknown etiology unique to infancy. Whereas lung histopathology has been the gold standard for the diagnosis of ILD, as many of the disorders have a genetic basis, non-invasive diagnosis is feasible, and characteristic clinical and imaging features may allow for specific diagnosis in some circumstances. The underlying mechanisms, clinical, imaging, and lung pathology features and outcomes of ILD presenting in newborns are reviewed with an emphasis on genetic mechanisms and diagnosis.
Copyright © 2017 Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  Alveolar capillary dysplasia; Genetic basis of disease; Lung development; Mutation; Neuroendocrine cell hyperplasia of infancy; Surfactant

Mesh:

Substances:

Year:  2017        PMID: 28363760      PMCID: PMC5537026          DOI: 10.1016/j.siny.2017.03.003

Source DB:  PubMed          Journal:  Semin Fetal Neonatal Med        ISSN: 1744-165X            Impact factor:   3.926


  50 in total

1.  A mutation in the surfactant protein C gene associated with familial interstitial lung disease.

Authors:  L M Nogee; A E Dunbar; S E Wert; F Askin; A Hamvas; J A Whitsett
Journal:  N Engl J Med       Date:  2001-02-22       Impact factor: 91.245

2.  Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype.

Authors:  Stephanie D Davis; Thomas W Ferkol; Margaret Rosenfeld; Hye-Seung Lee; Sharon D Dell; Scott D Sagel; Carlos Milla; Maimoona A Zariwala; Jessica E Pittman; Adam J Shapiro; Johnny L Carson; Jeffrey P Krischer; Milan J Hazucha; Matthew L Cooper; Michael R Knowles; Margaret W Leigh
Journal:  Am J Respir Crit Care Med       Date:  2015-02-01       Impact factor: 21.405

3.  Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins.

Authors:  Przemyslaw Szafranski; Avinash V Dharmadhikari; Jennifer A Wambach; Chris T Towe; Frances V White; R Mark Grady; Pirooz Eghtesady; F Sessions Cole; Gail Deutsch; Partha Sen; Paweł Stankiewicz
Journal:  Am J Med Genet A       Date:  2014-05-19       Impact factor: 2.802

4.  Maternal somatic mosaicism of FOXF1 mutation causes recurrent alveolar capillary dysplasia with misalignment of pulmonary veins in siblings.

Authors:  Ho Ming Luk; Tao Tang; Kwong Wai Richard Choy; Ming For Tony Tong; On Kit Wong; Fai Man Ivan Lo
Journal:  Am J Med Genet A       Date:  2016-04-25       Impact factor: 2.802

5.  Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.

Authors:  Przemyslaw Szafranski; Zeynep H Coban-Akdemir; Rosemarie Rupps; Serge Grazioli; David Wensley; Shalini N Jhangiani; Edwina Popek; Anna F Lee; James R Lupski; Cornelius F Boerkoel; Paweł Stankiewicz
Journal:  Am J Med Genet A       Date:  2016-07-04       Impact factor: 2.802

Review 6.  European protocols for the diagnosis and initial treatment of interstitial lung disease in children.

Authors:  Andrew Bush; Steve Cunningham; Jacques de Blic; Angelo Barbato; Annick Clement; Ralph Epaud; Meike Hengst; Nural Kiper; Andrew G Nicholson; Martin Wetzke; Deborah Snijders; Nicolaus Schwerk; Matthias Griese
Journal:  Thorax       Date:  2015-07-01       Impact factor: 9.139

7.  Filamin A mutation may be associated with diffuse lung disease mimicking bronchopulmonary dysplasia in premature newborns.

Authors:  Amanda Lord; Adam J Shapiro; Christine Saint-Martin; Martine Claveau; Serge Melançon; Pia Wintermark
Journal:  Respir Care       Date:  2014-07-22       Impact factor: 2.258

Review 8.  Copa Syndrome: a Novel Autosomal Dominant Immune Dysregulatory Disease.

Authors:  Timothy J Vece; Levi B Watkin; Sarah Nicholas; Debra Canter; Michael C Braun; R Paul Guillerman; Karen W Eldin; Grant Bertolet; Scott McKinley; Marietta de Guzman; Lisa Forbes; Ivan Chinn; Jordan S Orange
Journal:  J Clin Immunol       Date:  2016-04-05       Impact factor: 8.317

9.  Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Authors:  Przemyslaw Szafranski; Tomasz Gambin; Avinash V Dharmadhikari; Kadir Caner Akdemir; Shalini N Jhangiani; Jennifer Schuette; Nihal Godiwala; Svetlana A Yatsenko; Jessica Sebastian; Suneeta Madan-Khetarpal; Urvashi Surti; Rosanna G Abellar; David A Bateman; Ashley L Wilson; Melinda H Markham; Jill Slamon; Fernando Santos-Simarro; María Palomares; Julián Nevado; Pablo Lapunzina; Brian Hon-Yin Chung; Wai-Lap Wong; Yoyo Wing Yiu Chu; Gary Tsz Kin Mok; Eitan Kerem; Joel Reiter; Namasivayam Ambalavanan; Scott A Anderson; David R Kelly; Joseph Shieh; Taryn C Rosenthal; Kristin Scheible; Laurie Steiner; M Anwar Iqbal; Margaret L McKinnon; Sara Jane Hamilton; Kamilla Schlade-Bartusiak; Dawn English; Glenda Hendson; Elizabeth R Roeder; Thomas S DeNapoli; Rebecca Okashah Littlejohn; Daynna J Wolff; Carol L Wagner; Alison Yeung; David Francis; Elizabeth K Fiorino; Morris Edelman; Joyce Fox; Denise A Hayes; Sandra Janssens; Elfride De Baere; Björn Menten; Anne Loccufier; Lieve Vanwalleghem; Philippe Moerman; Yves Sznajer; Amy S Lay; Jennifer L Kussmann; Jasneek Chawla; Diane J Payton; Gael E Phillips; Erwin Brosens; Dick Tibboel; Annelies de Klein; Isabelle Maystadt; Richard Fisher; Neil Sebire; Alison Male; Maya Chopra; Jason Pinner; Girvan Malcolm; Gregory Peters; Susan Arbuckle; Melissa Lees; Zoe Mead; Oliver Quarrell; Richard Sayers; Martina Owens; Charles Shaw-Smith; Janet Lioy; Eileen McKay; Nicole de Leeuw; Ilse Feenstra; Liesbeth Spruijt; Frances Elmslie; Timothy Thiruchelvam; Carlos A Bacino; Claire Langston; James R Lupski; Partha Sen; Edwina Popek; Paweł Stankiewicz
Journal:  Hum Genet       Date:  2016-04-12       Impact factor: 4.132

10.  Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA.

Authors:  Takuji Suzuki; Takuro Sakagami; Bruce K Rubin; Lawrence M Nogee; Robert E Wood; Sarah L Zimmerman; Teresa Smolarek; Megan K Dishop; Susan E Wert; Jeffrey A Whitsett; Gregory Grabowski; Brenna C Carey; Carrie Stevens; Johannes C M van der Loo; Bruce C Trapnell
Journal:  J Exp Med       Date:  2008-10-27       Impact factor: 14.307

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  18 in total

Review 1.  Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders.

Authors:  Marie Vincent; Justyna A Karolak; Gail Deutsch; Tomasz Gambin; Edwina Popek; Bertrand Isidor; Przemyslaw Szafranski; Cedric Le Caignec; Paweł Stankiewicz
Journal:  Am J Respir Crit Care Med       Date:  2019-11-01       Impact factor: 21.405

2.  Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Authors:  Justyna A Karolak; Marie Vincent; Gail Deutsch; Tomasz Gambin; Benjamin Cogné; Olivier Pichon; Francesco Vetrini; Heather C Mefford; Jennifer N Dines; Katie Golden-Grant; Katrina Dipple; Amanda S Freed; Kathleen A Leppig; Megan Dishop; David Mowat; Bruce Bennetts; Andrew J Gifford; Martin A Weber; Anna F Lee; Cornelius F Boerkoel; Tina M Bartell; Catherine Ward-Melver; Thomas Besnard; Florence Petit; Iben Bache; Zeynep Tümer; Marie Denis-Musquer; Madeleine Joubert; Jelena Martinovic; Claire Bénéteau; Arnaud Molin; Dominique Carles; Gwenaelle André; Eric Bieth; Nicolas Chassaing; Louise Devisme; Lara Chalabreysse; Laurent Pasquier; Véronique Secq; Massimiliano Don; Maria Orsaria; Chantal Missirian; Jérémie Mortreux; Damien Sanlaville; Linda Pons; Sébastien Küry; Stéphane Bézieau; Jean-Michel Liet; Nicolas Joram; Tiphaine Bihouée; Daryl A Scott; Chester W Brown; Fernando Scaglia; Anne Chun-Hui Tsai; Dorothy K Grange; John A Phillips; Jean P Pfotenhauer; Shalini N Jhangiani; Claudia G Gonzaga-Jauregui; Wendy K Chung; Galen M Schauer; Mark H Lipson; Catherine L Mercer; Arie van Haeringen; Qian Liu; Edwina Popek; Zeynep H Coban Akdemir; James R Lupski; Przemyslaw Szafranski; Bertrand Isidor; Cedric Le Caignec; Paweł Stankiewicz
Journal:  Am J Hum Genet       Date:  2019-01-10       Impact factor: 11.025

Review 3.  Stem cell biology and regenerative medicine for neonatal lung diseases.

Authors:  Martin Kang; Bernard Thébaud
Journal:  Pediatr Res       Date:  2017-10-18       Impact factor: 3.756

Review 4.  Approaching Clinical Trials in Childhood Interstitial Lung Disease and Pediatric Pulmonary Fibrosis.

Authors:  Robin R Deterding; Emily M DeBoer; Michal J Cidon; Terry E Robinson; David Warburton; Gail H Deutsch; Lisa R Young
Journal:  Am J Respir Crit Care Med       Date:  2019-11-15       Impact factor: 21.405

5.  Identification of a deletion containing TBX4 in a neonate with acinar dysplasia by rapid exome sequencing.

Authors:  Kendell German; Gail H Deutsch; Amanda S Freed; Katrina M Dipple; Shilpi Chabra; James T Bennett
Journal:  Am J Med Genet A       Date:  2019-03-03       Impact factor: 2.802

6.  CT features of diffuse lung disease in infancy.

Authors:  Paolo Toma; Aurelio Secinaro; Oliviero Sacco; Davide Curione; Renato Cutrera; Nicola Ullmann; Claudio Granata
Journal:  Radiol Med       Date:  2018-03-22       Impact factor: 3.469

Review 7.  Genetic causes of surfactant protein abnormalities.

Authors:  Lawrence M Nogee
Journal:  Curr Opin Pediatr       Date:  2019-06       Impact factor: 2.856

8.  In utero gene editing for monogenic lung disease.

Authors:  Deepthi Alapati; William J Zacharias; Heather A Hartman; Avery C Rossidis; John D Stratigis; Nicholas J Ahn; Barbara Coons; Su Zhou; Hiaying Li; Kshitiz Singh; Jeremy Katzen; Yaniv Tomer; Alexandra C Chadwick; Kiran Musunuru; Michael F Beers; Edward E Morrisey; William H Peranteau
Journal:  Sci Transl Med       Date:  2019-04-17       Impact factor: 17.956

Review 9.  Recognizing genetic disease: A key aspect of pediatric pulmonary care.

Authors:  Lael M Yonker; Megan H Hawley; Peter P Moschovis; Mengdi Lu; T Bernard Kinane
Journal:  Pediatr Pulmonol       Date:  2020-07

10.  The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children.

Authors:  Amanda S Freed; Sarah V Clowes Candadai; Megan C Sikes; Jenny Thies; Heather M Byers; Jennifer N Dines; Mesaki Kenneth Ndugga-Kabuye; Mallory B Smith; Katie Fogus; Heather C Mefford; Christina Lam; Margaret P Adam; Angela Sun; John K McGuire; Robert DiGeronimo; Katrina M Dipple; Gail H Deutsch; Zeenia C Billimoria; James T Bennett
Journal:  J Pediatr       Date:  2020-06-15       Impact factor: 4.406

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