儿童间质性肺病的遗传学诊断

Genetic diagnosis of interstitial lung disease in children

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。

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.