Primary Ciliary Dyskinesia

(aka Immotile Cilia Syndrome)

Epidemiology

  • Autosomal recessive
  • Prevalence: 1 in 15,000-30,000
  • Some cases may actually be acquired (not clear at this time)

Etiology

  • Classification of Types:
    1) Kartagener’s Syndrome (50% of Primary Ciliary Dyskinesia cases): situs inversus totalis + sinusitis or nasal polyps + sterility + bronchiectasis
    2) Sinusitis + Bronchiectasis (25% of cases):

Physiology

  • Dysfunctional ciliary motility due to loss of dynein arms

Diagnosis

  • PFT’s: mild-moderate obstruction

CXR/Chest CT Patterns:
1) Bronchiectasis:
2) Situs Inversus: 50% have situs inversus totalis
3)

Nasal Mucosal Bx: reveals dysfunctional cilia


Clinical

  • Lung Involvement:
    1) Bronchiectasis: 50% have clinically significant bronchiectasis
    2) Recurrent Pulmonary Infection:

-Other SIte Involvement:
1) Situs inversus (50%): note that onyl 25% ofpatienst with situs inversus will have ciliary dysmotility and bronchiectasis
2) Situs ambiguous: switched ab-dominal contents (gastric bubble appears under right HD) with normal heart position
2) Male sterility:
3) Recurrent sinusitis: