Clinical features, misdiagnosis, and treatment of clinically diagnosed complete Kartagener syndrome: A three-case series for primary care
Abstract
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…
How strong is the evidence?
Evidence Hub reads this as a case series, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
Read the paper
Related studies
- Severe clinical outcomes of COVID-19 associated with proton pump inhibitors: a nationwide cohort study with propensity score matching
- Ferulic acid regulates the AKT/GSK-3β/CRMP-2 signaling pathway in a middle cerebral artery occlusion animal model
- Association between cord blood 25-hydroxyvitamin D concentrations and respiratory tract infections in the first 6 months of age in a Korean population: a birth cohort study (COCOA)
- Novel Pharmacokinetic/Pharmacodynamic Parameters Quantify the Exposure–Effect Relationship of Levofloxacin against Fluoroquinolone-Resistant Escherichia coli
- Neuroprotective Effects of Epicatechin against Oxidative Stress-Induced Cognitive Impairment: A Systematic Review and Meta-Analysis
- Photochemical behavior of levofloxacin
Go deeper in Evidence Hub
Evidence Hub adds a study data sheet (design, sample size, evidence level, key numbers), an AI summary and a chat grounded in the paper's text.