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.