Kartagener Syndrome

Kartagener syndrome is a medical condition, which is primarily characterized by three changes: situs inversus, bronchiectasis and chronic sinusitis. This is a rare hereditary disease, caused by a gene defect, as you will have the opportunity to read below. It is estimated that one in three people are born with the triad of changes that encompass Kartagener syndrome. Even though the symptoms were described for the first time in 1904, it was Kartagener that actually described them as a syndrome. The condition is inherited through an autosomal recessive pattern and there is no gender predilection discovered so far.

Symptoms of Kartagener Syndrome

These are the most common symptoms of Kartagener syndrome:

• Chronic upper and lower respiratory tract infections – these are caused by the primary ciliary dyskinesia (the cilia lining of the respiratory tract is inefficient).
• Recurrent pneumonia
• Accentuated pulmonary sounds upon examination
• Obstructive lung disease leading to wheezing
• Chronic wet and productive cough (identified in all infants diagnosed with this condition)
• Difficult breathing (dyspnea)
• Chronic sinusitis – this appears to the inefficient drainage of the sinonasal system and may lead in time to other symptoms, such as nasal congestion or a rhinorrhea; in more serious cases, it can cause the chronic effusion at the level of the middle ear, leading to purulent otorrhea (purulent discharge). The chronic effusion can cause the retraction of the tympanic membrane
• Other ear problems that may appear include keratosis obturans, cholesteatoma and tympanosclerosis
• The chronic sinusitis can lead to sinus pressure headaches, affecting the maxillary and the periorbital region.
• The rhinorrhea can be described as thick and mucoid (present since childhood)
• Pale and swollen nasal mucosa upon examination
• The patient can also present mucopurulent secretions
• The sense of smell can become impaired
• Nasal polyps can be present (in 30% of the patients)
• The spermatozoa might lack the necessary motility, which can lead to infertility in male adults
• Situs inversus anomalies are present, being consistent with the whole diagnosis (heart sounds identified on the right side of the chest)
• Digital clubbing at the level of the extremities.

Causes

As it was already mentioned, Kartagener syndrome is caused by a genetic defect, being inherited through the autosomal recessive pattern. This means that, in order for an individual to present this condition, he/she has to inherit the defect gene from both parents. Scientists are still in the research phase, trying to identify the exact genes that lead to the appearance of this syndrome.

Diagnosis

These are the most common methods that can be used for the diagnosis of the Kartagener syndrome:

• Medical history of the patient
• Reveals history of chronic respiratory tract infections, along with the symptoms mentioned above
• Can be used to identify other elements that can suggest the diagnosis, such as the chronic sinusitis or the situs inversus (provided the patient is aware of it)
• Physical examination
• Respiratory sounds
• Heart sounds (identified on the right side, which is suggestive of situs inversus)
• Symptoms of respiratory problems (wheezing, dyspnea)
• Electron microscopy
• This can be used in order to visualize the ciliary ultrastructure
• Sample – brush biopsy or nasal scrape
• High speed video microscopy – delivers the best visualization of the ciliary structure
• Semen analysis (performed in adult males)
• Identification of abnormal semen motility
• Analysis of spermatozoa ultrastructure
• Other diagnostic tests
• Nasal nitric oxide measurement
• Mucociliary clearance
• Immunofluorescent analysis
• Research phase
• Genetic testing – isolation of genetic mutations that are causing the Kartagener syndrome
• Imaging studies
• X-rays or CT scans of the sinuses – these investigations reveal the thickening of the sinus mucosa, the opacification of the sinus cavities and the hypoplasia of the frontal sinuses
• Chest X-ray – thickening of the bronchial wall (suggestive of the infection), bronchiectasis and situs inversus; hyperinflation and atelectasis can also be identified through such investigations
• High-resolution CT scan – best investigation for the confirmation of Kartagener syndrome
• Other investigations
• Saccharine tests – allows for the calculation of the mucociliary clearance rate
• Nitric oxide – the test measures how much nasal nitric oxide is exhaled (reduced rate in case of primary ciliary dyskinesia)
• Mucociliary transport – requires the administration of inhalation aerosols, in order to measure the rate of mucociliary transportation
• Audiologic testing – can identify the affectation of the tympanic membrane, as well as the hearing loss due to the effusion process that has occurred at the level of the middle ear
• Pulmonary function studies – spirometry (obstructive ventilator defect), static lung volumes (hyperinflation) and response to bronchodilators
• Mucosal biopsy – performed with general anesthesia
• Nasal endoscopy – allows for the identification of nasal polyps

Treatment

These are the most common measures that can be taken for the management of Kartagener syndrome:

• Antibiotics
• Two main methods of administration – oral and intravenous
• Routine of administration – continuous or intermittent
• Recommended as treatment for the chronic upper and lower respiratory tract infections
• For children – preventative treatment with antibiotics (long term and low dosage administration)
• Prophylactic therapy is often done with gentamicin, which has been shown to reduce the frequency of exacerbations
• Antibiotic therapy can be successfully used for chronic otorrhea
• In case of obstructive lung disease
• Inhaled bronchodilators
• Aggressive pulmonary toilet
• Administration of mucolytics
• Other treatments – antibiotics (inhaled), corticosteroids (oral or inhaled), recombinant human DNAse (more studies are required to confirm the benefits of these treatments)
• Treatments with temporary symptomatic relief – bronchodilators (regular), recombinant human deoxyribonuclease and N-acetylcysteine
• Nebulized hypertonic or normal saline solution – recommended for the breaking up for the mucosal secretions
• Pulmonary physiotherapy – improve the quality of the breathing process
• Standard vaccination as preventive measure – against pneumonia and flu
• Quitting smoking – smoking adds to the already existent respiratory distress
• Application of tympanostomy tubes – reduce hearing loss and prevent recurrent infections
• Endoscopic sinus surgery – can improve the symptoms caused by chronic sinusitis.

The patients who are diagnosed with Kartagener syndrome should visit the doctor on a regular basis, so as to have their respiratory function checked. The visits to the doctor should be performed at least twice per year, including the following investigations: spirometry testing, culture of the sputum and imagining studies.