基因检测在诊断儿童呼吸系统遗传病中的应用
Application of Genetic Testing in the Diagnosis of Respiratory Genetic Diseases in Children
DOI: 10.12677/MD.2022.122015, PDF,   
作者: 王 峡, 符 州, 李 莹：重庆医科大学附属儿童医院呼吸科，国家儿童健康与疾病临床医学研究中心，儿童发育疾病研究教育部重点实验室，儿科学重庆市重点实验室，重庆
关键词: 基因检测；呼吸系统；儿童；Genetic Testing； Respiratory System； Children
摘要: 近年来基因检测技术不断发展，逐渐在罕见病的诊断中开展应用。儿童呼吸系统罕见病多与遗传相关，但其临床表型异质性大，临床上容易误诊、漏诊。本文对儿童呼吸系统常见单基因病的临床特征、基因诊断的应用进行综述，旨在提高儿科医生对呼吸系统遗传病的认识，并合理应用基因检测技术。
Abstract: In recent years, genetic testing technology has been continuously developed and gradually applied in the diagnosis of rare diseases. Rare diseases of the respiratory system in children are mostly related to genetics, but their clinical phenotypes are highly heterogeneous and are easily misdiagnosed and missed clinically. This article reviews the clinical characteristics and application of genetic diagnosis of common monogenic diseases of the respiratory system in children, aiming to improve pediatricians’ understanding of genetic diseases of the respiratory system and rationally apply genetic testing technology.
文章引用：王峡, 符州, 李莹. 基因检测在诊断儿童呼吸系统遗传病中的应用[J]. 医学诊断, 2022, 12(2): 95-100. https://doi.org/10.12677/MD.2022.122015

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