Nathan Nadia, Berdah Laura, Delestrain Céline, Sileo Chiara, Clement Annick
Pediatric pulmonology department, Trousseau hospital, reference center for rare lung diseases RespiRare, Assistance publique-Hôpitaux de Paris (AP-HP), , 75012 Paris, France; Sorbonne université and Inserm UMRS933, 75012 Paris, France.
Pediatric pulmonology department, Trousseau hospital, reference center for rare lung diseases RespiRare, Assistance publique-Hôpitaux de Paris (AP-HP), , 75012 Paris, France.
Presse Med. 2020 Jun;49(2):103909. doi: 10.1016/j.lpm.2019.06.007. Epub 2020 Jun 18.
Interstitial lung disease (ILD) in children (chILD) is a heterogeneous group of rare respiratory disorders that are mostly chronic and associated with high morbidity and mortality. The pathogenesis of the various chILD is complex and the diseases share common features of inflammatory and fibrotic changes of the lung parenchyma that impair gas exchanges. The etiologies of chILD are numerous. In this review, we chose to classify them as ILD related to exposure/environment insults, ILD related to systemic and immunological diseases, ILD related to primary lung parenchyma dysfunctions and ILD specific to infancy. A growing part of the etiologic spectrum of chILD is being attributed to molecular defects. Currently, the main genetic mutations associated with chILD are identified in the surfactant genes SFTPA1, SFTPA2, SFTPB, SFTPC, ABCA3 and NKX2-1. Other genetic contributors include mutations in MARS, CSF2RA and CSF2RB in pulmonary alveolar proteinosis, and mutations in TMEM173 and COPA in specific auto-inflammatory forms of chILD. However, only few genotype-phenotype correlations could be identified so far. Herein, information is provided about the clinical presentation and the diagnosis approach of chILD. Despite improvements in patient management, the therapeutic strategies are still relying mostly on corticosteroids although specific therapies are emerging. Larger longitudinal cohorts of patients are being gathered through ongoing international collaborations to improve disease knowledge and targeted therapies. Thus, it is expected that children with ILD will be able to reach the adulthood transition in a better condition.
儿童间质性肺疾病（chILD）是一组异质性的罕见呼吸系统疾病，大多为慢性疾病，且发病率和死亡率较高。各种chILD的发病机制复杂，这些疾病具有肺实质炎症和纤维化改变的共同特征，会损害气体交换。chILD的病因众多。在本综述中，我们选择将其分类为与暴露/环境损伤相关的ILD、与全身性和免疫性疾病相关的ILD、与原发性肺实质功能障碍相关的ILD以及婴儿期特有的ILD。chILD病因谱中越来越大的一部分归因于分子缺陷。目前，与chILD相关的主要基因突变存在于表面活性剂基因SFTPA1、SFTPA2、SFTPB、SFTPC、ABCA3和NKX2 - 1中。其他遗传因素包括肺泡蛋白沉积症中MARS、CSF2RA和CSF2RB的突变，以及特定自身炎症形式的chILD中TMEM173和COPA的突变。然而，到目前为止仅能确定少数基因型与表型的相关性。本文提供了有关chILD临床表现和诊断方法的信息。尽管患者管理有所改善，但治疗策略仍主要依赖于皮质类固醇，不过也有一些特异性疗法正在出现。通过正在进行的国际合作正在收集更大规模的患者纵向队列，以增进对疾病的了解并开发针对性疗法。因此，预计患有ILD的儿童能够在更好的状态下度过成年期过渡阶段。
