中国实用儿科杂志

中国实用儿科杂志 ›› 2022, Vol. 37 ›› Issue (4): 269-272.DOI: 10.19538/j.ek2022040607

• 专题笔谈 • 上一篇    下一篇

儿童间质性肺病的遗传学诊断

  

  1. 浙江大学医学院附属儿童医院呼吸内科  国家儿童健康与疾病临床医学研究中心，浙江  杭州  310052
  • 出版日期:2022-04-06 发布日期:2022-05-23
  • 通讯作者: 唐兰芳，电子信箱：6195007@zju.edu.cn

Genetic diagnosis of interstitial lung disease in children

  1. Department of Pulmonology，Children’s Hospital，Zhejiang University School of Medicine，National Clinical Research Center for Child Health，Hangzhou  310052，China
  • Online:2022-04-06 Published:2022-05-23

摘要： 儿童间质性肺病（chILD）是一组少见、分类复杂、高度异质性疾病，其特点主要为肺弥漫性浸润、限制性通气和换气功能障碍。儿童间质性肺病的诊断需要结合年龄、临床表现、胸部高分辨率计算机断层扫描（HRCT）、支气管镜和遗传学检测综合分析得出，尤其是在遗传学检测迅猛发展的当下，支气管镜、胸腔镜、开胸肺组织活检将不再作为其主要诊断手段。文章就儿童间质性肺病的遗传学诊断进行详细阐述。

关键词: 间质性肺病, 胸部高分辨率CT, 支气管镜, 遗传学检测, 儿童

Abstract: Child interstitial lung disease（chILD）is a group of rare，complicated and highly heterogeneous diseases，which are mainly characterized by diffuse lung infiltration，restrictive ventilation and ventilatory dysfunction.The diagnosis of chILD requires comprehensive analysis of age，clinical manifestations，chest high-resolution CT（HRCT），bronchoscopy and genetic analysis；especially，in the current rapid development of genetic analysis，bronchoscopy，thoracoscopiy and thoracotomic lung biopsy are no longer the main diagnostic methods.This elaborates on the genetic diagnosis of chILD.

Key words: interstitial lung disease, high-resolution CT of the chest, bronchoscopy, genetic analysis, child