Nogee Lawrence M
Eudowood Neonatal Pulmonary Division, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Semin Fetal Neonatal Med. 2017 Aug;22(4):227-233. doi: 10.1016/j.siny.2017.03.003. Epub 2017 Mar 28.
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.
术语“间质性肺疾病”(ILD)指的是一组累及肺的气腔和组织间隙的疾病,这些疾病更准确地应称为弥漫性肺疾病。尽管罕见,但它们与显著的发病率和死亡率相关,预后取决于具体诊断。新生儿期出现的儿童ILD主要类别包括发育障碍、生长障碍、表面活性剂功能障碍疾病以及婴儿期特有的病因不明的特定病症。虽然肺组织病理学一直是ILD诊断的金标准,但由于许多疾病具有遗传基础,非侵入性诊断是可行的,并且在某些情况下,特征性的临床和影像学表现可能有助于做出特定诊断。本文对新生儿期出现的ILD的潜在机制、临床、影像学和肺病理学特征及转归进行综述,重点关注遗传机制和诊断。