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Primary Ciliary Dyskinesia

Reviewed 06/2021
 


BASICS

  • Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder of cilia structure, function, and biogenesis leading to neonatal respiratory distress, chronic oto-sino-pulmonary disease...

DIAGNOSIS

  • Testing for PCD should be performed if there is a high clinical suspicion and other more common diseases have been ruled out.

  • A definitive diagnosis cannot be made clinically and thus require...

TREATMENT

  • Respiratory:

    • Aggressive, early treatment of upper and lower airway infections with prolonged, high-dose oral antibiotics; low threshold for treatment (2)[B]

      • Most common organisms are nontype...

ONGOING CARE

  • Lung disease in PCD is progressive if not adequately treated; appropriate medical therapy has been shown to stabilize and prevent deterioration of lung function (as opposed to CF, which t...

REFERENCES

1
Lobo  J, Zariwala  MA, Noone  PG. Primary ciliary dyskinesia. Semin Respir Crit Care Med.  2015;36(2):169–179. [View Abstract on OvidMedline] ...

ADDITIONAL READING

  • Armengot Carceller  M, Mata Roig  M, Milara Payá  X, et al. Primary ciliary dyskinesia. Ciliopathies. Acta Otorrinolaringol Esp. ...

CODES

ICD10

  • K59.8 Other specified functional intestinal disorders

  • Q43.8 Other specified congenital malformations of intestine

SNOMED

  • 86204009 immotile cilia syndrome (disorder)

  • 233663004 Primary ciliary dy...

CLINICAL PEARLS

  • PCD is an underdiagnosed disease, and a delay in diagnosis and treatment is associated with a significant decline in lung function.

  • An assessment of ciliary function and structure is cu...

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