Department of Respiratory Medicine, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, China, No. 56 Nailishi Road, Xicheng District, Beijing, 100045, China.
Orphanet J Rare Dis. 2020 Jan 22;15(1):25. doi: 10.1186/s13023-019-1270-7.
Childhood interstitial lung diseases (ILD) (chILD) refer to a rare heterogeneous group of disorders. Global collaborations have been working on the etiologies and classification scheme of chILD. With the development of medical technologies, some new diseases were identified to be associated with chILD and its etiologic spectrum is expanding. The aim of this study is to describe the etiologic spectrum of chILD in children older than 2 years of age and summarize the approaches to diagnosis of chILD.
We made a retrospective analysis of children older than 2 years of age with chILD who referred to Beijing Children's Hospital from 21 provinces all over China from 2013 to 2018. After excluding pulmonary infection, congenital heart disease, bronchopulmonary dysplasia, bronchiolitis obliterans and bronchiectasis, 133 patients were included and categorized by etiology. Clinical manifestations, high-resolution computed tomography, laboratory data, genetic data and pathologic findings were all collected and reviewed.
Systemic disease associated ILD were the most common causes, accounting for 49.6% of the patients, followed by alveolar structure disorder-associated ILD (27%), exposure related ILD (13.5%), and disorders masquerading as ILD (3.8%). In systemic disease associated ILD, in addition to common etiologies such as vasculitis (10.5%) and connective tissue diseases (9.0%), primary immunodeficiency diseases (PID) associated ILD (9.8%), interstitial pneumonia with autoimmune features (6.8%), and metabolic diseases (6.8%) were not rarely found. Some newly reported etiologies such as STING-associated vasculopathy with onset in infancy, COPA syndrome and STAT3 mutation were included in PID associated ILD. Genetic tests contributed to 15% of the diagnoses which mainly distributed in PID associated ILD, metabolic diseases and surfactant dysfunction disorders, and contributed to the final diagnoses more than lung biopsies (13.5%) and biopsies of rashes or other tissues (12%).
This study first demonstrated an etiologic spectrum of chILD in Chinese children older than 2 years of age and summarized the approaches to diagnosis. The etiologic spectrum of chILD is expanding with more genetic etiologies being recognized.
儿童间质性肺疾病（ILD）（chILD）是一组罕见的异质性疾病。全球合作一直在研究 chILD 的病因和分类方案。随着医疗技术的发展，一些新的疾病被发现与 chILD 有关，其病因谱正在扩大。本研究旨在描述 2 岁以上儿童 chILD 的病因谱，并总结 chILD 的诊断方法。
我们对 2013 年至 2018 年来自中国 21 个省的北京儿童医院就诊的 2 岁以上 chILD 患儿进行了回顾性分析。排除肺部感染、先天性心脏病、支气管肺发育不良、闭塞性细支气管炎和支气管扩张后，共纳入 133 例患儿，并按病因分类。收集并回顾了临床表现、高分辨率计算机断层扫描、实验室数据、遗传数据和病理发现。
全身性疾病相关 ILD 是最常见的病因，占患者的 49.6%，其次是肺泡结构紊乱相关 ILD（27%）、暴露相关 ILD（13.5%）和伪装为 ILD 的疾病（3.8%）。在全身性疾病相关 ILD 中，除了常见的病因，如血管炎（10.5%）和结缔组织疾病（9.0%）外，还发现了与原发性免疫缺陷病（PID）相关的 ILD（9.8%）、具有自身免疫特征的间质性肺炎（6.8%）和代谢性疾病（6.8%）。一些新报告的病因，如 STING 相关血管病伴婴儿期发病、COPA 综合征和 STAT3 突变，也包括在 PID 相关 ILD 中。基因检测对 15%的诊断有帮助，主要分布在 PID 相关 ILD、代谢性疾病和表面活性剂功能障碍疾病中，对最终诊断的贡献超过肺活检（13.5%）和皮疹或其他组织活检（12%）。
本研究首次在中国 2 岁以上儿童中展示了 chILD 的病因谱，并总结了诊断方法。随着更多遗传病因的发现，chILD 的病因谱正在扩大。
