鼻窦炎-中耳炎-双肺弥漫支气管扩张  

Sinusitis,otitis media and diffuse bronchiectasis in both lungs

作　　者：周王继 赵新月 刘雅萍[2] 郑姝颖[3] 徐凯峰[1] 田欣伦[1] Wangji Zhou;Xinyue Zhao;Yaping Liu;Shuying Zheng;Kaifeng Xu;Xinlun Tian(Department of Respiratory and Critical Care Medicine,State Key Laboratory of Complex Severe and Rare Diseases,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Medical Genetics,Institute of Basic Medical Sciences,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100005,China;Laboratory of Electron Microscopy,People′s Hospital of Peking University,Beijing 100044,China)

机构地区：[1]中国医学科学院北京协和医学院北京协和医院呼吸与危重症医学科疑难重症及罕见病国家重点试验室,北京100730 [2]中国医学科学院北京协和医学院基础医学研究所医学遗传学系,北京100005 [3]北京大学人民医院电镜室,北京100044

出　　处：《中华结核和呼吸杂志》2022年第11期1117-1120,共4页Chinese Journal of Tuberculosis and Respiratory Diseases

基　　金：中国医学科学院临床与转化医学研究基金(2020-I2M-C&T-B-002);中国医学科学院医学与健康科技创新工程项目(CIFMS 2021-I2M-1-003)。

摘　　要：原发性纤毛运动障碍(PCD)是一种罕见的常染色体隐性或X连锁相关的双等位基因变异遗传病,以纤毛运动障碍为特征。典型表现包括支气管扩张、分泌性中耳炎、鼻窦炎、内脏反位和不孕不育等,常因临床表现相似需与囊性纤维化(CF)鉴别。本文介绍1例幼年起反复咳嗽、咳痰伴发热的青少年女性,有分泌性中耳炎、鼻窦炎病史,曾考虑诊断CF。后经基因测序发现PCD相关致病基因复合杂合变异,结合临床表现、影像学特点,最终诊断为PCD。Primary ciliary dyskinesia(PCD)is a rare autosomal recessive or X-linked biallelic mutations inherited disease,characterized by motile cilia dysfunction.Typical manifestations include bronchiectasis,secretory otitis media,sinusitis,situs inversus,and infertility.PCD often needs to be differentiated from cystic fibrosis(CF)because of similar clinical manifestations.In this paper,a juvenile female who presented with recurrent cough and expectoration with fever since early childhood,had a history of secretory otitis media and sinusitis,and had been considered for the diagnosis of CF.After the discovery of compound heterozygous mutations in PCD related pathogenic genes by gene sequencing,combined with the clinical manifestations and imaging characteristics,PCD was finally diagnosed.

关 键 词：支气管扩张 鼻窦炎 青少年女性 常染色体隐性 囊性纤维化 不孕不育 分泌性中耳炎 内脏反位 

分 类 号：R765.41[医药卫生—耳鼻咽喉科] R764.21[医药卫生—临床医学] R562.22