Clinical features, misdiagnosis, and treatment of clinically diagnosed complete Kartagener syndrome: A three-case series for primary care

Kartagener syndrome (KS) is a rare autosomal recessive motile ciliopathy and a well-recognized subtype of primary ciliary dyskinesia, classically defined by the triad of situs inversus totalis, chronic sinusitis, and bronchiectasis, with frequent accompanying infertility. Because of its non-specific clinical manifestations overlapping with common respiratory disorders and limited availability of gold-standard diagnostic tools in primary care settings, KS is frequently misdiagnosed or diagnosed late. This study retrospectively analyzed the clinical data, diagnostic trajectories, and treatment outcomes of three adult patients with clinically diagnosed complete KS admitted to our institution between May 2021 and December 2022. All patients presented with long-standing recurrent cough and expectoration; two presented with hemoptysis and one with type II respiratory failure. Initial misdiagnoses included bronchiectasis, non-tuberculous mycobacterial infection, and chronic obstructive pulmonary disease. Clinical diagnosis of complete KS was established based on the classic triad on imaging combined with core clinical features, as confirmatory genetic or ultrastructural testing was not available. Pathogen testing detected Acinetobacter baumannii in one patient, while another patient had a coinfection of Pseudomonas aeruginosa and Enterobacter cloacae . One more patient received empirical antimicrobial therapy because their family declined bronchoscopy. After individualized treatment, clinical improvement was observed in all patients, with symptom resolution, normalized inflammatory markers, and stable disease during 6–12 months of follow-up. These findings underscore that the combined features of “situs inversus totalis + bronchiectasis + chronic sinusitis + childlessness/infertility (when formally confirmed)” are key diagnostic clues for KS in primary care. Primary care clinicians should strengthen awareness of this rare entity and use a multisystem diagnostic approach to prevent misdiagnosis and underdiagnosis. Prompt targeted antimicrobial therapy and sustained comprehensive long-term management were associated with favorable clinical outcomes in this small case series.