Interstitial lung disease in newborns

被引:65
作者
Nogee, Lawrence M. [1 ]
机构
[1] Johns Hopkins Univ, Sch Med, Dept Pediat, Eudowood Neonatal Pulm Div, Baltimore, MD 21205 USA
基金
美国国家卫生研究院;
关键词
Lung development; Alveolar capillary dysplasia; Surfactant; Mutation; Genetic basis of disease; Neuroendocrine cell hyperplasia of infancy; ALVEOLAR-CAPILLARY DYSPLASIA; NEUROENDOCRINE CELL HYPERPLASIA; PRIMARY CILIARY DYSKINESIA; PULMONARY VEINS; ACINAR DYSPLASIA; BRONCHOPULMONARY DYSPLASIA; SURFACTANT DEFICIENCY; CLINICAL-FEATURES; GENETIC-DISORDERS; MUTATIONS;
D O I
10.1016/j.siny.2017.03.003
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
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. (C) 2017 Elsevier Ltd. All rights reserved.
引用
收藏
页码:227 / 233
页数:7
相关论文
共 50 条
  • [1] Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing
    Barnett, Christopher P.
    Nataren, Nathalie J.
    Klingler-Hoffmann, Manuela
    Schwarz, Quenten
    Chong, Chan-Eng
    Lee, Young K.
    Bruno, Damien L.
    Lipsett, Jill
    McPhee, Andrew J.
    Schreiber, Andreas W.
    Feng, Jinghua
    Hahn, Christopher N.
    Scott, Hamish S.
    [J]. HUMAN MUTATION, 2016, 37 (09) : 955 - 963
  • [2] Neuroendocrine Cell Hyperplasia of Infancy: Diagnosis With High-Resolution CT
    Brody, Alan S.
    Guillerman, R. Paul
    Hay, Thomas C.
    Wagner, Brandie D.
    Young, Lisa R.
    Deutsch, Gail H.
    Fan, Leland L.
    Deterding, Robin R.
    [J]. AMERICAN JOURNAL OF ROENTGENOLOGY, 2010, 194 (01) : 238 - 244
  • [3] ABCA3 mutations associated with pediatric interstitial lung disease
    Bullard, JE
    Wert, SE
    Whitsett, JA
    Dean, M
    Nogee, LM
    [J]. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2005, 172 (08) : 1026 - 1031
  • [4] European protocols for the diagnosis and initial treatment of interstitial lung disease in children
    Bush, Andrew
    Cunningham, Steve
    De Blic, Jacques
    Barbato, Angelo
    Clement, Annick
    Epaud, Ralph
    Hengst, Meike
    Kiper, Nural
    Nicholson, Andrew G.
    Wetzke, Martin
    Snijders, Deborah
    Schwerk, Nicolaus
    Griese, Matthias
    [J]. THORAX, 2015, 70 (11) : 1078 - 1084
  • [5] Pulmonary interstitial glycogenosis - A new variant of neonatal interstitial lung disease
    Canakis, AM
    Cutz, E
    Manson, D
    O'Brodovich, H
    [J]. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2002, 165 (11) : 1557 - 1565
  • [6] The incidence and characteristics of neonatal irreversible lung dysplasia
    Cassidy, J
    Smith, J
    Goldman, A
    Haynes, S
    Smith, E
    Wright, C
    Haworth, S
    Davis, P
    Firmin, R
    Kasem, K
    Davis, C
    [J]. JOURNAL OF PEDIATRICS, 2002, 141 (03) : 426 - 428
  • [7] Clinical Features of Childhood Primary Ciliary Dyskinesia by Genotype and Ultrastructural Phenotype
    Davis, Stephanie D.
    Ferkol, Thomas W.
    Rosenfeld, Margaret
    Lee, Hye-Seung
    Dell, Sharon D.
    Sagel, Scott D.
    Milla, Carlos
    Zariwala, Maimoona A.
    Pittman, Jessica E.
    Shapiro, Adam J.
    Carson, Johnny L.
    Krischer, Jeffrey P.
    Hazucha, Milan J.
    Cooper, Matthew L.
    Knowles, Michael R.
    Leigh, Margaret W.
    [J]. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2015, 191 (03) : 316 - 324
  • [8] Diffuse lung disease in young children - Application of a novel classification scheme
    Deutsch, Gail H.
    Young, Lisa R.
    Deterding, Robin R.
    Fan, Leland L.
    Dell, Sharon D.
    Bean, Judy A.
    Brody, Alan S.
    Nogee, Lawrence M.
    Trapnell, Bruce C.
    Langston, Claire
    Albright, Eric A.
    Askin, Frederic B.
    Baker, Peter
    Chou, Pauline M.
    Cool, Carlyne M.
    Coventry, Susan C.
    Cutz, Ernest
    Davis, Mary M.
    Dishop, Megan K.
    Galambos, Csaba
    Patterson, Kathleen
    Travis, William D.
    Wert, Susan E.
    White, Frances V.
    [J]. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2007, 176 (11) : 1120 - 1128
  • [9] Ultrastructure of lamellar bodies in congenital surfactant deficiency
    Edwards, V
    Cutz, E
    Viero, S
    Moore, AM
    Nogee, L
    [J]. ULTRASTRUCTURAL PATHOLOGY, 2005, 29 (06) : 503 - 509
  • [10] Categorizing diffuse parenchymal lung disease in children
    Griese, Matthias
    Irnstetter, Armin
    Hengst, Meike
    Burmester, Helen
    Nagel, Felicitas
    Ripper, Jan
    Feilcke, Maria
    Pawlita, Ingo
    Gothe, Florian
    Kappler, Matthias
    Schams, Andrea
    Wesselak, Traudl
    Rauch, Daniela
    Wittmann, Thomas
    Lohse, Peter
    Brasch, Frank
    Kroener, Carolin
    [J]. ORPHANET JOURNAL OF RARE DISEASES, 2015, 10