Primary Ciliary Dyskinesia (Kartagener Syndrome) Clinical Presentation

Updated: Jun 12, 2020
  • Author: Elena B Willis, MD; Chief Editor: John J Oppenheimer, MD  more...
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Presentation

History

Patients commonly present with chronic upper and lower respiratory tract infections resulting from an ineffective mucociliary mechanism. Patients present initially in the neonatal period, suggestive of ineffective ciliary motion needed to clear fetal lung fluid. As many as 80% of newborn babies with primary ciliary dyskinesia develop respiratory distress in the first 12-24 hours of life. [22]

When taking a history, pertinent findings include chronic wet cough with unexplained respiratory distress. This cough is described as wet and productive, found in nearly 100% of infants. [14] Coupled with improper drainage of the sinonasal system, this leads to congestion, rhinorrhea, and chronic middle ear effusions with possible purulent otorrhea.

Some male patients present later in life with sterility due to immotile spermatozoa. Females may have a higher rate of ectopic pregnancy.

Lastly, situs inversus abnormalities on imaging are relatively specific for Kartagener syndrome. [23]

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Physical Examination

Primary ciliary dyskinesia is characterized by the clinical triad of chronic sinusitis, bronchiectasis, and situs inversus. The majority of patients are seen by a physician more than 50 times before the diagnosis is made at an average age of 10-14 years. [19]

Upper airway

Patients may exhibit chronic, thick, mucoid rhinorrhea from early in childhood. Examination usually reveals pale and swollen nasal mucosa, mucopurulent secretions, and an impaired sense of smell. Nasal polyps are recognized in 30% of affected individuals. [24]

The recurrent chronic pansinusitis typically produces sinus pressure headaches in the maxillary and periorbital region. Symptoms usually improve with antibiotic therapy but have a propensity for rapid recurrence. [24]

Recurrent otitis media is a common manifestation of primary ciliary dyskinesia. Examination may reveal a retracted tympanic membrane with poor or absent mobility and a middle-ear effusion. Other associated otologic disorders may include tympanosclerosis, cholesteatoma, and keratosis obturans. [24]

Middle ear symptoms in primary ciliary dyskinesia (PCD) patients tend to remain severe throughout childhood, with improvement only after age 18 years, and, in a recent study, grommet tympanostomy tube placement did not improve the middle ear condition. In this study, half the patients with a history of grommet placement eventually developed tympanic perforation, which is much more frequent than in the general pediatric population. These patients, therefore, should be closely followed and a specific treatment approach may be required, especially in the treatment of persistent middle ear effusion, as repeated grommet placement can predispose patients to chronic otitis and worsen the long-term prognosis. [25]

Lower respiratory tract

Chronic bronchitis, recurrent pneumonia, and bronchiectasis are common conditions in patients with primary ciliary dyskinesia and are often caused by pseudomonal infection. [15] Thus, upon physical examination of the patient's chest, increased tactile fremitus, rhonchi, crackles, and, occasionally, wheezes may be present.

Obstructive lung disease may be another component of Kartagener syndrome symptomatology. It probably results from elevated levels of local inflammatory mediators in a chronically irritated airway. Although, wheezing may occur, the lung examination may be normal during intercurrent periods when the airway is not actively inflamed.

Other features

Cardiovascular examination of a patient with primary ciliary dyskinesia demonstrates a point of maximal impulse, and the heart sounds are heard best on the right side of the chest.

Extremities may exhibit digital clubbing.

Chest wall abnormalities, such as pectus excavatum, may be seen.

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