Kartagener综合征1例报告  

Clinical features and gene analysis of Kartagener syndrome: A case report

作　　者：韩晓博 张宇涵 张信信 孙天宇 王韧韬[1] 解立新[1] HAN Xiaobo;ZHANG Yuhan;ZHANG Xinxin;SUN Tianyu;WANG Rentao;XIE Lixin(College of Pulmonary and Critical Care Medicine,the Eighth Medical Center,Chinese PLA General Hospital,Beijing 100091,China;Chinese PLA Medical School,Beijing 100853,China)

机构地区：[1]解放军总医院第八医学中心呼吸与危重症学部,北京100091 [2]解放军医学院,北京100853

出　　处：《解放军医学院学报》2021年第11期1201-1204,共4页Academic Journal of Chinese PLA Medical School

基　　金：国家自然科学基金项目(81670005)。

摘　　要：目的分析原发性纤毛运动障碍(primary ciliary dyskinesia,PCD)的特殊类型Kartagener综合征的临床特点及实验室检查结果。结合文献总结PCD的诊断方法研究进展。方法回顾分析解放军总医院第八医学中心呼吸与危重症医学部收治的1例Kartagener综合征女性患者的临床资料。结果 40岁女性患者,反复咳嗽咳痰16年,活动后憋喘5年。鼻窦CT提示多组副鼻窦炎,慢性鼻炎;肺CT提示内脏转位,双肺多发囊状支气管扩张。透射电镜下可见纤毛部分外动力臂缺失及复合纤毛。全外显子基因检测提示DNAH5单基因杂合突变。检索文献及数据库发现在PCD患者基因检测中有少数患者存在单基因杂合突变。结论 Kartagener综合征临床罕见,典型临床表现结合透射电镜检测可以协助明确诊断,全外显子基因检测有助于PCD的早期诊断。Objective To analyze the clinical features and laboratory examinations of Kartagener syndrome-a special type of primary ciliary dyskinesia(PCD) and summarize the progress of diagnostic methods for PCD. Methods Clinical data about a female patient with Kartagener syndrome who admitted to our hospital were retrospectively analyzed. Results The patient was a 40-year-old female with a history of recurrent cough and sputum for 16 years and a history of shortness of breath after activity for 5 years. CT of the sinuses suggested multiple groups of paranasal sinusitis. CT of chest showed situs inversus totalis with bronchiectasis. The ultrastructure defects of ciliary were observed by transmission electron microscope(TEM), including outer dynein arm defects and compound cilia. Genetic testing revealed one heterozygous mutation in the DNAH5 gene. By searching the literatures, we found that there were reports of heterozygous mutations in a few patients with PCD. Conclusion Kartagener syndrome is rare in clinical practice. Typical clinical manifestations combined with transmission electron microscopy can be employed to assist in making a definite diagnosis, and total exon gene detection is helpful for the early diagnosis of PCD.

关 键 词：DNAH5基因 原发性纤毛运动障碍 KARTAGENER综合征 支气管扩张症 内脏转位 

分 类 号：R596[医药卫生—内科学]