(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)

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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):

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Physiology

• Dysfunctional ciliary motility due to loss of dynein arms

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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

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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:

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