全外显子组基因测序辅助诊断原发性纤毛运动障碍  

Application of whole exome sequencing in patients with primary ciliary dyskinesia

作　　者：陈可 史婧 胡莉娟[2] 张丽 曹旻璐 郭玮 金美玲[1,2] CHEN Ke;SHI Jing;HU Lijuan;ZHANG Li;CAO Minlu;GUO Wei;JIN Meiling(Department of Allergy,Zhongshan Hospital,Fudan University,Shanghai 200032,China;Department of Pulmonary and Critical Care Medicine,Zhongshan Hospital,Fudan University,Shanghai 200032,China;Department of Laboratory Medicine,Zhongshan Hospital,Fudan University,Shanghai 200032,China)

机构地区：[1]复旦大学附属中山医院变态(过敏)反应科,上海200032 [2]复旦大学附属中山医院呼吸与危重症医学科,上海200032 [3]复旦大学附属中山医院检验科,上海200032

出　　处：《中国临床医学》2024年第6期1006-1010,共5页Chinese Journal of Clinical Medicine

基　　金：国家自然科学基金(82270028).

摘　　要：2021年12月,复旦大学附属中山医院收治1例29岁男性患者。该患者反复咳嗽、咳痰、喘息,血清总IgE明显升高,烟曲霉特异性IgE阳性,肺功能检查提示极重度混合性通气功能障碍,结合胸部CT结果,考虑支气管扩张症、变应性支气管肺曲霉菌病。结合其低水平呼出气一氧化氮(fractional exhaled nitric oxide,FeNO)和鼻呼出气一氧化氮(nasal nitric oxide,nNO)、出生后咳嗽不愈、父母近亲结婚等,考虑原发性纤毛运动障碍(primary ciliary dyskinesia,PCD)等遗传性疾病可能。全外显子组测序(whole exome sequencing,WES)结果显示,患者CCDC40基因14号外显子纯合突变,确诊PCD。A 29-year-old man visited Zhongshan Hospital,Fudan University in December 2021.The patient presented with recurrent coughing,sputum,and wheezing,high level of serum total IgE,positive aspergillus fumigatus-specific IgE and extremely severe mixed ventilatory dysfunction.These features and thoracic CT results scan showed bronchiectasis and allergic bronchopulmonary aspergillosis.In consideration of his clinical characteristics,including low levels of fractional exhaled nitric oxide(FeNO),and nasal nitric oxide(nNO),persistent cough after birth,consanguineous marriage of his parents,etc.we ratiocinated a possibility of hereditary diseases,especially primary ciliary dyskinesia(PCD).From this perspective,whole exome sequencing(WES)was performed and the diagnosis of PCD was ultimately confirmed.

关 键 词：原发性纤毛运动障碍 支气管扩张症 变应性支气管肺曲霉菌病 全外显子组测序 

分 类 号：R562.22[医药卫生—呼吸系统] R596[医药卫生—内科学]