A Case Report of Kartagener’s Syndrome: Clinical Presentation, Diagnosis, and Management Challenges
Year: 2025
Type: article
Study design: Case Report
Abstract: Background: Kartagener’s Syndrome (KS) is a rare autosomal recessive genetic disorder characterized by defects in the structure and function of cilia. It is a subset of primary ciliary dyskinesia (PCD) and is defined by a triad of chronic sinusitis, bronchiectasis, and situs inversus totalis. The condition often leads to infertility due to impaired sperm motility. Given its rarity and overlapping symptoms with other respiratory diseases, KS is frequently misdiagnosed. Case Presentation: Our client was a 40-year-old male who presented to the Rivers State University Teaching Hospital, Port Harcourt, Rivers State, South-south Nigeria with recurrent productive cough, rhinorrhea, exertional breathlessness, and wheezing—symptoms have been present since childhood. He had been managed for bronchial asthma at a peripheral center and also reported a history of primary infertility for six years. Clinical examination revealed respiratory distress, oxygen saturation of 87% on room air, and auscultatory findings of coarse crepitations and inspiratory rhonchi. Notably, cardiac auscultation localized heart sounds to the right side of the chest, raising suspicion of situs inversus. A chest computed tomography (CT) scan confirmed cystic bronchiectasis and situs inversus totalis, leading to a diagnosis of Kartagener’s Syndrome. Spirometry demonstrated an obstuctive ventilatory pattern with significantly reduced Forced Expiratory Volume in 1 second (FEV1), Forced Vital Capacity (FVC) and FEV1/FVC ratios. The patient was managed with antibiotics, bronchodilators, steroids, antihistamines, and chest physiotherapy. Educating and counseling the patient on disease condition, referred to psychotherapists/ Social support group. He remains under follow-up in the respiratory clinic for long-term care. Conclusion Kartagener’s Syndrome, though rare, has been reported globally (1–5). Due to symptom overlap with asthma and other chronic respiratory conditions, it is frequently underdiagnosed. Early recognition using clinical evaluation and imaging studies is crucial for appropriate management and improved patient outcomes.
Language: English
Subfield: Pulmonary and Respiratory Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4416904683