Kartagener’s Syndrome: Symptoms, Causes, Treatment

What are the symptoms of Kartagener’s syndrome?

Kartagener’s syndrome, a rare genetic disorder, presents with the following symptoms:

• Chronic respiratory issues: Persistent cough, recurrent lung infections, and bronchiectasis due to impaired cilia function.
• Chronic sinusitis: Frequent sinus infections and nasal congestion.
• Situs inversus: The reversal of internal organs (e.g., heart on the right side).
• Infertility: In males, due to impaired sperm motility; in females, due to issues with cilia in the fallopian tubes.
• Chronic ear infections: Leading to possible hearing loss.

What are the causes of Kartagener’s syndrome?

Kartagener’s syndrome is caused by genetic mutations that affect the function of cilia, tiny hair-like structures that help move fluids and mucus in the respiratory tract, reproductive system, and other parts of the body. The disorder is inherited in an autosomal recessive pattern, meaning a person needs to inherit two copies of the defective gene (one from each parent) to develop the condition. Mutations in genes like DNAI1 and DNAH5 disrupt cilia’s normal function, leading to the characteristic symptoms of Kartagener’s syndrome.

What is the treatment for Kartagener’s syndrome?

Treatment for Kartagener’s syndrome focuses on managing symptoms and preventing complications:

• Airway clearance: Regular techniques like chest physiotherapy or postural drainage help clear mucus from the lungs.
• Antibiotics: Used to treat and prevent respiratory infections.
• Bronchodilators: Help open the airways for better breathing.
• Sinus surgery: May be needed for chronic sinusitis.
• Fertility treatments: Address reproductive issues due to ciliary dysfunction.

There is no cure, so treatment aims to improve quality of life and manage symptoms.