1例Kartagener综合征患者基因类型并文献复习

本文回顾性分析1例Kartagener综合征（Kartagener Syndrome，KS）病例的临床资料，检索数据库对近10年报道的KS病例进行分析归纳。患者男性，23岁，自幼反复发作鼻窦炎、肺部感染。完善辅助检查提示全组副鼻窦炎、支气管扩张并感染、右位心、腹腔全脏器反位。通过基因检测技术，在原发性纤毛运动障碍3型伴或不伴内脏异位相关的DNAH5基因上检出2个与受检者表型相符的致病变异；在常染色体隐性遗传的原发性纤毛运动障碍6型相关的NME8基因上检出2个与受检者表型相符的罕见变异，确诊为KS。全科医生应重视KS等遗传病和罕见病，通过文献检索扩大诊疗思路，辅以基因检测技术协助临床诊断，做到早期诊断，早期管理，贯彻以患者为中心的全科理念。 

Gene type of a patient with Kartagener syndrome and literature review

The clinical data of one Kartagener syndrome (KS) case were retrospectively analyzed, and the reported KS cases in the past 10 years were analyzed and summarized by searching the database. The patient was a 23-year-old male with recurrent sinusitis and pulmonary infection since childhood. Complete auxiliary examination showed the whole group of paranasal sinusitis, bronchiectasis with infection, dextrocardia, and peritoneal situs inversus totalis. Two pathogenic variants were detected in DNAH5 gene of primary ciliary dyskinesia type 3 with or without splanchnic ectopic. Two rare variants in the NME8 gene associated with autosomal recessive inheritance primary ciliary dyskinesia type 6 were identified, which was diagnosed as KS. General practitioners should pay attention to genetic diseases and rare diseases such as KS, expand diagnosis and treatment ideas through literature retrieval, assist clinical diagnosis with genetic testing technology, achieve early diagnosis and early management, and implement the patient-centered philosophy of general practice.