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Primary Ciliary Dyskinesia and Kartagener’s Syndrome

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Overview

Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder characterised by dysfunctional movement of the cilia in the respiratory tract, sinuses, middle ear, Fallopian tubes, and flagella of sperm cells.

PCD occurring in combination with situs inversus (where the organs in the chest and abdomen are mirrored and on the other side) is known as Kartagener’s syndrome.

Epidemiology

  • Incidence is higher if there is a family history of consanguinity in the parents

Presentation

  • Respiratory symptoms due to impaired respiratory secretion removal:
    • Recurrent pulmonary infections
    • Respiratory distress syndrome
    • Chronic cough and mucus production – may mimic cystic fibrosis (CF)
    • Upper respiratory symptoms such as rhinorrhoea
    • COPD or bronchiectasis
  • Recurrent otitis media – due to impaired cilia in the middle ear
  • Subfertility or infertility – due to impaired cilia in the Fallopian tubes and impaired sperm flagella
  • An examination may reveal:
    • Dextrocardia – the heart is pointed towards the right
    • Situs inversus – the organs of the chest and abdomen are mirrored

Investigations

Overview

  • Chest x-ray:
    • May show dextrocardia, hyperinflation, and/or bronchial wall thickening
  • Semen analysis:
    • Considered in infertility
  • Airway biopsy and cilia microscopy:
    • Identifies impaired movement of the cilia

Differential Diagnoses

Cystic fibrosis

  • Although both can cause respiratory symptoms with a chronic, productive cough, CF has additional features such as meconium ileus and malabsorption which are not seen in PCD. This is because the problem in PCD is due to impaired cilia movement rather than the secretions themselves.

Management

Overview

Management is similar to cystic fibrosis and involves regular chest physiotherapy and long-term low-dose antibiotic prophylaxis against Staphylococcus aureus and Haemophilus influenzae.

Complications

Prognosis

  • Early diagnosis and intervention are associated with better outcomes
  • The presence of bronchiectasis is associated with a poorer prognosis

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