Primary ciliary dyskinesia
Alerts and Notices
Synopsis

Primary ciliary dyskinesia is evenly distributed between men and women and occurs in approximately 1 out of every 10 000-30 000 individuals. Due to involvement of embryonic nodal cilia, body symmetry is random and up to 50% of patients will have situs inversus totalis.
The symptoms and disease progression vary considerably based on the degree and distribution of ciliary dysfunction. Some patients' only manifestation will be infertility, while others can have progressive lung disease from bronchiectasis. Other manifestations include chronic rhinosinusitis with nasal polyps, chronic otitis with conductive hearing loss, and headaches. Approximately 12% of people with primary ciliary dyskinesia will have heterotaxy, with abnormalities in the position or structure of the gastrointestinal tract, spleen, or heart.
Codes
ICD10CM:Q34.8 – Other specified congenital malformations of respiratory system
SNOMEDCT:
86204009 – Immotile cilia syndrome
Look For
Subscription Required
Diagnostic Pearls
Subscription Required
Differential Diagnosis & Pitfalls
- Alpha-1 antitrypsin deficiency
- Chronic obstructive pulmonary disease
- Asthma
- Cystic fibrosis
- Idiopathic interstitial pneumonia
- Idiopathic nasal polyposis
- Interstitial lung disease
- Postinfectious bronchiectasis
- Invasive pulmonary infection, ie, aspergillosis
- Foreign body aspiration
- Chronic aspiration
- Allergic rhinitis
Best Tests
Subscription Required
Management Pearls
Subscription Required
Therapy
Subscription Required
References
Subscription Required
Last Reviewed:07/01/2020
Last Updated:03/24/2022
Last Updated:03/24/2022