Virginia Research Day 2025

Medical Resident Research Case Reports

17 Unraveling Kartagener’s: The Triad of Mystery in Cilia Dysfunction

Patrick Pagaduan DO; Omair Khokhar MD; Daniel Collector MD; Sulaiman Tijani MD Corresponding author: patrick.pagaduan@lpnt.net

SOVAH Health Internal Medicine Residency Program

Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder characterized by congenital impairment of mucociliary clearance. Affecting approximately 1 in 7,500 individuals worldwide, PCD is equally prevalent in males and females. The pathophysiology involves defects in ciliary structure or function, resulting in impaired ciliary motion and potentially ciliary aplasia or dysmotility. Around 50% of PCD patients present with situs inversus, or differential organ laterality. Kartagener syndrome, a subset of PCD, is defined by the triad of situs inversus, chronic sinusitis, and bronchiectasis. Additional clinical manifestations include reduced fertility, chronic otitis media, and conductive hearing loss. We present the case of a 49-year-old woman with history of Kartagener’s syndrome who presented with shortness of breath. Initially managed in an outpatient

setting with a prednisone taper and cefdinir, her symptoms did not improve, leading to an ED visit for progressive dyspnea and hypoxia. Chest x-ray showed hyperinflation of the lungs as well as dextrocardia, but no acute pathology. Follow-up imaging with chest CT showed right lung consolidation, bronchiectasis, and extensive tree-in-bud nodularity. Sputum culture identified Pseudomonas aeruginosa, and a pneumonia panel detected a Klebsiella pneumoniae carbapenemase gene. She was treated with IV antibiotics and aggressive pulmonary hygiene, then transitioned to oral antibiotics and discharged with follow-up by pulmonology. This case highlights a common convention in Kartagener’s syndrome, bacterial resistance, and colonization. The most common pathogens cultured include Haemophilus influenzae, Staphylococcus

aureus, Streptococcus pneumonia, and Pseudomonas aeruginosa . Standard management involves aggressive pulmonary therapy to enhance mucociliary clearance and rotating prophylactic antibiotics to slow lung disease progression. In this case, the patient was on alternating tobramycin and azithromycin therapy, prescribed by her pulmonologist. The goal of these treatments is to delay progression of lung disease. Patients also require close monitoring of their respiratory function, with spirometry the mainstay of evaluation. For effective management of Kartagener’s syndrome, collaboration among specialists, including pulmonology and ENT, along with coordinated care from primary care providers, is essential.

57

2025 Research Recognition Day