Makindo Medical Notes

Kartagener's Syndrome: A subset of Primary Ciliary Dyskinesia (PCD), Kartagener's Syndrome is a rare autosomal recessive genetic disorder characterized by the triad of situs inversus (reversed organ positioning), chronic sinusitis, and bronchiectasis. It is caused by defects in the dynein arm of cilia, leading to impaired mucociliary clearance.

About

• Inheritance: Autosomal recessive condition.
• Pathophysiology: Defective cilia lead to impaired clearance of respiratory secretions, increasing the risk of recurrent infections.
• Components: Kartagener's Syndrome includes:
  • Primary Ciliary Dyskinesia (PCD).
  • Situs inversus (present in ~50% of cases).
  • Chronic sinusitis.
  • Bronchiectasis.
  • Dynein defect (a structural abnormality in cilia).

Aetiology

• Impaired ciliary function results in the inability to clear respiratory secretions, leading to chronic infections and bronchiectasis.

Clinical Features

• Chronic productive cough with mucus and sputum.
• Nasal congestion and recurrent sinusitis.
• Situs inversus totalis in approximately 50% of cases.
• Bronchiectasis and recurrent ear infections (otitis media).
• Male infertility due to immotile sperm; potential fertility issues in females related to fallopian tube dysfunction.
• Neonatal respiratory distress caused by defective ciliary function.

Differential Diagnoses

• Bronchiectasis from other causes.
• Cystic fibrosis.
• Immunodeficiency syndromes.

Associated Conditions

• Rheumatoid arthritis.
• Inflammatory bowel disease.
• Immunodeficiency syndromes.

Investigations

Management

• Infection Management:
  • Prompt use of antibiotics for bacterial infections.
  • Consider prophylactic antibiotics for recurrent infections.
• Airway Clearance: Techniques such as physiotherapy, postural drainage, and mucolytics to aid expectoration.
• Medications:
  • Bronchodilators for airflow obstruction.
  • Inhaled steroids for inflammation control.
  • Long-term oxygen therapy in severe cases.
• Monitoring:
  • Regular lung function tests and imaging to assess progression.
  • Hearing assessments due to recurrent ear infections.
• Genetic Counselling: Essential for affected families to understand inheritance patterns and risks to offspring.
• Specialist Referral: Coordinate care with respiratory and otolaryngology specialists for comprehensive management.

References

• Primary Ciliary Dyskinesia resources: NORD: Primary Ciliary Dyskinesia
• Detailed clinical guidelines: NIH - Kartagener's Syndrome