Kartagener Syndrome, also referred to as primary ciliary dyskinesia (PCD), is a rare genetic disorder characterized by a specific triad of symptoms, including situs inversus, chronic sinusitis, and bronchiectasis.
Situs inversus, the first component of Kartagener Syndrome, involves the reversal or mirror-image positioning of visceral organs within the thoracic and abdominal cavities. This means that organs like the heart and stomach are found on the opposite side of the body compared to their usual anatomical location.
The second characteristic symptom is chronic sinusitis, which refers to long-term inflammation of the sinuses. This condition results in symptoms such as nasal congestion, facial pain, headaches, and persistent nasal discharge.
Bronchiectasis, the third defining feature of Kartagener Syndrome, is a chronic condition characterized by irreversible widening and scarring of the bronchial tubes, leading to recurrent respiratory infections, persistent cough, and difficulty breathing.
The underlying cause of Kartagener Syndrome is a genetic mutation affecting cilia motility. Cilia are tiny hair-like structures found on the surface of cells in various organs, including the respiratory tract. Due to the genetic defect, the cilia are unable to beat properly, impairing their ability to move mucus and particles out of the lungs and sinuses, thus leading to the development of common symptoms.
Kartagener Syndrome is a lifelong condition that requires multidisciplinary management involving specialist care from professionals such as pulmonologists, otolaryngologists, and geneticists. Treatment aims to alleviate symptoms, prevent complications, and improve quality of life through a combination of medications, physiotherapy, and regular follow-up to monitor and manage respiratory and sinus infections.
