What is Kartagener’s Syndrome & How is it Treated?

Kartagener’s syndrome is also called as Primary ciliary dyskinesia (PCD) or Immotile ciliary syndrome. It is a rare hereditary syndrome and affects the airways. Till date there is no known cure for Kartagener’s syndrome and the treatment is only by the management of its symptoms.

Primary ciliary dyskinesia is caused due to defects in the cilia lining of the respiratory tract, fallopian tubes and flagella of the sperm. Cilia are tiny hair like structures and their main function is to move mucus out of the respiratory passages or assist is the movement of ovum in the fallopian tube or sperm in the flagella. During infection more mucus is formed and due to their inefficient movement, abnormal cilia cannot remove this mucus out through the nose and throat. Thus, the mucus becomes thick and blocks the respiratory tract leading to various complications.

When primary ciliary dyskinesia is accompanied by situs inversus, chronic sinusitis and bronchiectasis, it is called as Kartagener’s syndrome (KS). Situs inversus means all of the vital organs in the chest and abdomen region are placed in reversed order as compared to their normal position. For example, liver, which is usually on the right, gets placed on the left and still it performs its function in a normal way.

Kartegener’s syndrome occurs in 50% of the primary ciliary dyskinesia cases. It is a rare autosomal recessive disorder.

Due to impaired motion of cilia, there is problem in the clearance of mucus from the lungs, which increases the risk of infections.

Primary ciliary dyskinesia causes a number of symptoms as:

• Frequent respiratory infections
• Frequent sinus infections leading to sinusitis
• Recurrent ear infection
• Chronic nasal congestion
• Infertility
• In some cases of chronic bronchiectasis, the fingers and toes may be clubbed.

Some cases of primary ciliary dyskinesia exhibit chronic bronchiectasis, chronic sinusitis and otitis media.

• Chronic bronchiectasis is characterized by chronic cough, shortness of breath and there is tiredness.
• In chronic sinusitis, the hollow spaces of the skull are highly infected which involves inflammation and swelling and also leads to poor sense of smell. It can further lead to recurrent ear infection called as otitis media.
• Since the motility of the flagella of sperm is affected, it impairs sperm motility and causes infertility in men.
• In case of females, there is a problem with ciliary motility in the lining of the fallopian tubes also leads to infertility problems in them.

Although there is transposition of some or all vital organs of the chest and abdomen, situs inversus does not cause much health problems. The heart and other vital organs probably function in a normal manner.

The frequency of Kartagener’s syndrome is estimated to be 1 in 30,000 live births. There is no predilection for gender. It mostly occurs in childhood stage and subsides in adulthood.

It is observed that patients with kartagener’s syndrome have difficult childhood due to persistent infections affecting the respiratory tract, sinus and ears. It severely affects the first decade of life but improves in the adulthood.

Chronic infections if not treated in time, lead to severe clinical symptoms with risk of decreased pulmonary function. In such cases, if bilateral lung transplantation is delayed the prognosis can be life-threatening.

Kartagener’s syndrome is caused due to the ciliary defect, which is an inherited genetic defect. More than 200 genes are implicated to play a role in primary ciliary dyskinesia. The reduction in the number of cilia which propel mucus is a very common problem although a number of other structural abnormalities are present.

Patients with primary ciliary dyskinesia show a wide array of defects in ultrastructure of the cilia and its motility. The defect in cilia motility impairs ciliary beating function and impairs the mucus clearing ability. The common defect detected is reduction of dynein arms, which decreases the ciliary beat frequency and cilia do not rotate.

Additionally, there is a probability of some chemical substance, which interfere with normal functioning of cilia.

• Staying in cold and humid climate can aggravate the infections during childhood. Similarly, consumption of cold eatables may aggravate severity of kartagener’s syndrome.
• Smoking can increase the severity of kartagener’s syndrome.

Some complications of kartagener’s syndrome are:

• Bronchiectasis (obstructive lung diseases)
• Pneumonia
• Difficulty in breathing
• Chronic cough and wheezing.

The patient may have only symptoms of kartagener’s syndrome and not show situs inversus.

At times kartagener’s syndrome is diagnosed in newborns who exhibit respiratory distress and requires oxygen therapy. It is commonly diagnosed during childhood.

Diagnosis of kartagener’s syndrome includes checking for signs of:

• Nasal polyps
• Decreased sense of smell
• Reduced or loss of hearing
• Clubbed fingers and toes

Other tests include:

• Breathing Test to Diagnose Kartagener’s Syndrome: To measure the amount of nitric oxide released during breathing. Patients with kartagener’s syndrome breathe out less of nitric oxide than normal.
• Biopsy to Detect Kartagener’s Syndrome: Small tissue of nose and trachea is collected and examined for the presence of cilia and if they have any structural abnormalities. The movement of cilia, beat frequency and co-ordination is measured.
• Semen sample is collected to check to check for the sperm motility and structural abnormality to detect kartagener’s syndrome.
• Imaging Tests for Diagnosing Kartagener’s Syndrome: Imaging methods such as X-ray and Computed tomography scans are used to look for lung infection, sinus malformations, and situs inversus.
• Pulmonary Function Tests to Diagnose Kartagener’s Syndrome:
  • Spirometry is used to reveal obstructive ventilatory defect with decrease in the ratio of forced expired volume in 1 second to forced vital capacity.
  • Lung volumes are checked. Static lung volumes indicate of hyperinflation.
  • The response to bronchodilators is also checked.

Till date there is no known cure for kartagener’s syndrome. However, a doctor can prescribe a treatment plan, which can help in the management of the symptoms and decrease risk of complications.

• If primary ciliary dyskinesia is diagnosed at an early age, then treatment becomes more effective and this decreases long time complications.
• Doctors prescribe a long-term dose of antibiotics and immunization. Antibiotics, either intravenous or oral, are administered to treat upper and lower respiratory tract infections. Children with primary ciliary dyskinesia are easily infected with microorganisms such as Haemophilus influenza and Staphylococcus aureus. These patients should be immunized with appropriate vaccines to prevent recurrence of infections and other problems associated with the condition. Inhaled corticosteroids are advised to control symptoms of bronchiectasis.
• In case of obstructive lung disease, it needs to be treated with inhaled bronchodilators. Mucolytics may be helpful. A cardiopulmonary specialist uses bronchoscopy and tracheotomy procedures to remove mucus out of the airways.
• Pulmonary physiotherapy and exercise have shown to improve respiratory quality.
• In case of severe lung damage, the doctor recommends bilateral lung transplantation.

By following the doctor’s advice and biannual follow up visits, many patients with kartagener’s syndrome lead a normal.

Kartegener’s syndrome is a rare genetic disorder, caused due to defects in the cilia. There is still no cure for it. Current research activities are increasing the knowledge regarding pathogenesis of this syndrome. This effort, in future will lead to better therapeutics aimed at improving life of kartagener’s syndrome patients.