罕见先天性综合征中的间质性肺病。
Interstitial Lung Disease in Rare Congenital Syndromes.
机构信息
Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.
出版信息
J Mother Child. 2020 Jul 29;24(1):47-52. doi: 10.34763/jmotherandchild.2020241.1931.000004.
Abstract
Diffuse or interstitial lung disease (DLD/ILD) comprises a diverse group of disorders that involve the pulmonary parenchyma. Its aetiology varies (which makes the diagnostic process difficult), but congenital diseases, including malformation syndromes or developmental disorders, constitute one of the causative factors. They are rare conditions, and thus their frequency is not high. However, considering the progress and increasing availability of genetic testing, detection of these rare syndromes may increase. The aim of this work is, therefore, to present the symptomatology of selected congenital syndromes with ILD, taking into account the genetic background.
摘要
弥漫性或间质性肺疾病（DLD/ILD）包括一组不同的疾病，涉及肺实质。其病因多种多样（这使得诊断过程变得困难），但包括畸形综合征或发育障碍在内的先天性疾病是其中一个致病因素。它们是罕见的疾病，因此其发病率不高。然而，考虑到基因检测的进展和日益普及，这些罕见综合征的检出率可能会增加。因此，本研究的目的是，鉴于遗传背景，介绍具有ILD 的一些先天性综合征的症状。
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