机构：[1]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临床科室职能科室呼吸科临床流行病与循证医学中心首都医科大学附属北京儿童医院
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.
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外文
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中科院(CAS)分区：
出版当年[2019]版：
大类|2 区医学
小类|3 区遗传学3 区医学：研究与实验
最新[2023]版：
大类|2 区医学
小类|2 区遗传学2 区医学：研究与实验
JCR分区：
出版当年[2018]版：
Q2GENETICS & HEREDITYQ2MEDICINE, RESEARCH & EXPERIMENTAL
最新[2023]版：
Q2GENETICS & HEREDITYQ2MEDICINE, RESEARCH & EXPERIMENTAL
第一作者机构：[1]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
通讯作者：
通讯机构：[1]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
推荐引用方式(GB/T 7714)：
Xiaolei Tang,Huimin Li,Hui Liu,et al.Etiologic spectrum of interstitial lung diseases in Chinese children older than 2 years of age.[J].ORPHANET JOURNAL OF RARE DISEASES.2020,15(1):25.doi:10.1186/s13023-019-1270-7.
APA：
Xiaolei Tang,Huimin Li,Hui Liu,Hui Xu,Haiming Yang...&Shunying Zhao.(2020).Etiologic spectrum of interstitial lung diseases in Chinese children older than 2 years of age..ORPHANET JOURNAL OF RARE DISEASES,15,(1)
MLA：
Xiaolei Tang,et al."Etiologic spectrum of interstitial lung diseases in Chinese children older than 2 years of age.".ORPHANET JOURNAL OF RARE DISEASES 15..1(2020):25
医学