Etiologic spectrum of interstitial lung diseases in Chinese children older than 2\u2009years of age

Xiaolei Tang,Hui Liu,Jinrong Liu,Hui Xu,Shunying Zhao,Haiming Yang,Huimin Li

doi:10.1186/s13023-019-1270-7

Abstract

BackgroundChildhood 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.MethodsWe 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.ResultsSystemic 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%).ConclusionsThis 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.

Highlights

Childhood interstitial lung diseases refer to a rare heterogeneous group of disorders associated with significant morbidity and mortality, characterized by abnormalities of the distal lung units and disordered gas exchange [1,2,3]
Inclusion and exclusion criteria Based on the combined experiences of clinicians, radiologists, and pathologists in Beijing Children’s Hospital, National Center for Children’s Health, we made a retrospective analysis of children older than 2 years of age with Childhood interstitial lung diseases (chILD) who referred from 21 provinces all over China to the Department of Respiratory Medicine (Ward 2) of Beijing Children’s Hospital from Jan 2013 to July 2018
Etiological classification Referring and modifying the classification schemes for chILD / diffuse lung disease (DLD) proposed by Clement A et al [4] and the chILD Research Co-operative of North America [5, 9], we used the following classification scheme for chILD children old than 2 years of age, which divided chILD into five categories: (1) exposure related interstitial lung diseases (ILD), (2) systemic disease associated ILD, (3) alveolar structure disorder-associated ILD, (4) disorders masquerading as ILD, (5) unclassified

Summary

Introduction

Childhood interstitial lung diseases (chILD) refer to a rare heterogeneous group of disorders associated with significant morbidity and mortality, characterized by abnormalities of the distal lung units and disordered gas exchange [1,2,3]. One existing classification scheme of chILD was proposed by Clement A et al, dividing chILD into four groups: “exposure related ILD”, “systemic disease associated ILD”, “alveolar structure disorder-associated ILD”, “ILD specific to infancy” [4]. Another common used classification scheme was proposed by the chILD Research Co-operative of North America for DLD in children, broadly dividing DLD into “disorders more prevalent in infancy” and “disorders not specific to infancy” according to the ages younger or older than 2 years [5]. 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

Objectives

Methods

Results

Conclusion