Kartagener Syndrome: Causes, Symptoms, and Management

Understanding Kartagener Syndrome

Kartagener syndrome is a rare genetic disorder, believed to follow an autosomal recessive inheritance pattern, with an incidence of approximately 1 in 20,000 live births.

Key Characteristics and Manifestations

This condition is one of the primary ciliary dyskinesia (PCD) syndromes, a group of disorders characterized by structural or functional alterations of cilia. These changes affect all ciliated epithelia in the body, including the respiratory epithelium (found in the sinuses and Eustachian tube) and sperm. This leads to impaired mucus clearance and retention.

Typically, Kartagener syndrome is characterized by a classic triad of symptoms:

• Situs Inversus (complete or partial): A rare anatomical abnormality where thoracic and/or abdominal organs are located on the opposite side of their normal position. While evidence is inconclusive, conditions underlying the misplacement of organs along the left-right axis during embryonic development appear to be associated with ciliary abnormalities.
• Bronchiectasis: Permanent dilation of the bronchi, often resulting from repeated bronchial infections. The mucociliary escalator acts as a crucial defense mechanism against infection; when this system is impaired, recurrent bronchial infections and subsequent bronchiectasis occur.
• Chronic Sinusitis: Persistent inflammation of one or more paranasal sinuses.

Other common manifestations and associated conditions include:

• Infertility (due to poor sperm motility or immobility)
• Chronic rhinitis (inflammation of the nasal mucosa)
• Olfactory disorders of varying degrees, including complete loss of smell (anosmia)
• Heart disease
• Recurrent otitis media (middle ear inflammation) and deafness
• Asplenia (absence of the spleen)
• Kidney malformations
• Retinal vessel abnormalities
• Corneal disorders
• Headaches of sinus origin
• Organ transposition

Kartagener syndrome can also be associated with other systemic diseases, such as rheumatoid arthritis.

Diagnosis and Management

Diagnosis is usually made in childhood, though a few cases are identified in adulthood. Diagnosis is straightforward when the typical triad of symptoms is present. However, in cases where situs inversus is absent (which occurs in about half of patients with PCD), a high index of suspicion is crucial for diagnosis.

To confirm Kartagener syndrome, a biopsy of the nasal mucosa is performed, which reveals characteristic ciliary alterations. Examination with an electron microscope allows for detailed confirmation of these functional and structural mucosal injuries.

When ciliary damage is focal, patients diagnosed early may benefit from surgical treatment. Early and appropriate treatment of respiratory infections is essential to prevent irreversible lung damage. The progression of lung damage depends on the existing disease severity and the effectiveness of ongoing management.