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“This patient was referred by the GP to general medical outpatients on account of malaise. Please examine the patient’s cardiovascular system and present your findings to the examiners.”
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Kartagener’s syndrome, also known as primary ciliary dyskinesia (PCD), is a rare genetic disease that follows an autosomal recessive inheritance pattern. The estimated prevalence is about 1 per 30,000. A genetic defect in cilia leads to ENT symptoms, infertility, and recurrent infections.
PCD is classically associated with the triad of symptoms:
- situs inversus
- chronic sinusitis
Chronic bronchitis leads to bronchiectasis, reflecting defective mucociliary clearance. About half of patients with PCD have right-left defects like situs inversus totalis. Dysfunction of embryological cilia can also lead to heterotaxy and congenital heart disease.
PCD’s clinical features often become apparent early in life. The majority (70-80%) of PCD patients present as neonates with respiratory distress. PCD is under-recognized, and newborns with respiratory distress are frequently misdiagnosed.
To summarize, PCD manifests clinically as follows:
- Left-right laterality defects (dextrocardia and situs inversus)
- Heterotaxy and cardiovascular defects
- Upper respiratory tract involvement (e.g. the classic feature rhinosinusitis)
- Lower respiratory tract infection
- A productive cough compensates for impaired mucociliary clearance
- Frontal sinus dysplasia
The gold standard diagnostic test for PCD is electron microscopic ultra-structural analysis of cilia. Samples are collected from nasal scrape or bronchial brush biopsy.
Clinical genetic testing is available for a subset of mutations that cause PCD.
PCD is genetically heterogeneous. Mutations in several genes encoding structural and functional proteins in cilia have been characterized. The genes that encode proteins in cilia are highly evolutionarily conserved across phyla. Disease-causing mutations generally lead to defective axonemal structure.
Originally, PCD was called “immotile cilia syndrome” because patients with recurrent sinusitis and bronchiectasis were thought to have immotile cilia. Later, it was determined that most cilia were in fact motile, but exhibited a poorly orchestrated or abnormal beat frequency. Ciliary beat frequency ranges from 8-20 Hz under normal circumstances. Respiratory irritants like tobacco smoke can release nitric oxide that increases beat frequency.
Since the structural components of cilia are highly complex and involve multiple proteins, it is unremarkable that a myriad of mutations can cause PCD. Efforts to identify PCD-specific genes using familial genome-wide linkage studies have been disappointing.
No treatment exists to restore cilia function. Most treatments recommended for PCD have been inferred from cystic fibrosis and bronchiectasis. The management of PCD should minimally involve monitoring nutritional status, daily airway clearance, antibiotics to control infections and routine vaccinations. Clinicians may also want to consider:
- Pulmonary function monitoring
- Oxyhaemoglobin saturation, spirometry and lung volume estimation
- Chest physical therapy (CPT) by hand percussion, postural drainage, or mechanical methods
- Aerosolized bronchodilators to maintain airway clearance
- Management of infections and aggressive airway clearance
- For recurrent or chronic infections, preventive oral or nebulized antibiotics are indicated.
- Regular lung function testing, respiratory cultures, and lung imaging should be considered
Honoré I, Burgel PR. Primary ciliary dyskinesia in adults. Rev Mal Respir. 2015;
Polineni D, Davis SD, Dell SD. Treatment recommendations in Primary Ciliary Dyskinesia. Paediatr Respir Rev. 2015;
Leigh MW, Pittman JE, Carson JL, et al. Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genet Med. 2009;11(7):473-87.
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Question 1 of 4
1. Question1 point(s)Category: Cardiovascular
What is the cardiac auscultation sign?CorrectIncorrect
Question 2 of 4
2. Question1 point(s)Category: Cardiovascular
What are the respiratory signs?CorrectIncorrect
Question 3 of 4
3. Question1 point(s)Category: Cardiovascular
What is the diagnosis?CorrectIncorrect
Question 4 of 4
4. Question1 point(s)Category: Brief clinical encounters
Primary ciliary dyskinesia is a triad of which three features?