Kartagener syndrome

Written by Sandy Calhoun Rice
Medically Reviewed by George Krucik, MD, MBA on June 5, 2013

Overview of Kartagener Syndrome

Kartagener syndrome is a rare hereditary disease caused by a gene defect. The defect is considered to be “autosomal recessive.” This means that an individual must inherit the gene from both parents in order to be affected.

This condition causes abnormalities of the respiratory tract. It also causes transposition of the organs. An estimated one in 30,000 people are born with Kartagener syndrome (Gupta et al., 2012).

It is marked by the presence of two distinct abnormalities: primary ciliary dyskinesia and situs inversus.

What Is Primary Ciliary Dyskinesia?

Primary ciliary dyskinesia (PCD) is abnormality of the cilia. The cilia are hair-like structures that line the mucous membranes of the lungs, nose, and sinuses.

Normal cilia move in a wave-like motion. They transport mucus up and out of the airways through the nose and mouth. This action, called motility, clears the sinuses and lungs of germs that can cause infection.

PCD results in cilia not moving, moving very little, or moving in the wrong direction. This causes bacteria and mucus to stay in the respiratory tract. Here it can breed chronic infection in the upper and lower airways.

Patients with PCD suffer from chronic sinusitis and permanent changes in the lungs. This is called bronchiectasis.

Chronic sinusitis is persistent infection, with swelling, and inflammation within hollow air spaces inside the skull. It can lead to recurrent ear infections called otitis media. This chronic ear infection may be severe enough to cause permanent tissue damage and deafness.

Bronchiectasis results in inflammation, enlargement, and scarring of the bronchial tubes due to repeated infections. This condition causes a chronic cough, fatigue, and shortness of breath.

Bronchiectasis is almost uniformly present in adults with Kartagener syndrome according to the National Institutes of Health Office of Rare Diseases Research. It is possible to have only PCD. However, about half of patients with PCD also have situs inversus. Those who have both are considered to have Kartagener syndrome (ORDR, 2013). 

The moveable tails of sperm (flagella) are often also affected. Abnormality in sperm motility may result in male infertility.

Male infertility is a common sign of Kartagener syndrome present in men. Women with Kartagener syndrome are often infertile because of cilia immotility in the lining of the Fallopian tubes.

What Is Situs Inversus?

Situs inversus occurs as the fetus grows in the mother’s womb. It causes the baby’s vital organs to grow on the opposite side of the body, forming a mirror image of the normal positioning. The liver may be on the left side of the body instead of the right, for example.

Situs solitus is the normal position of the organs. Patients with Kartagener syndrome may have different organ configurations:

  • situs inversus totalis (all organs are transposed in a mirror image of the normal positioning)
  • situs inversus thoracalis (only the lungs and heart are transposed)
  • situs inversus abdominalis (only the liver, stomach, and spleen are transposed)

The heart and other vital organs function normally in Kartagener syndrome, except for PCD abnormalities.

How Is Kartagener Syndrome Diagnosed?

There are three main symptoms that signal the presence of Kartagener syndrome (ORDR, 2013):

  1. chronic sinusitis
  2. bronchiectasis (in adults)
  3. situs inversus

The syndrome is sometimes diagnosed at birth, when the newborn has respiratory distress requiring oxygen therapy.

However, it is more often discovered in early childhood with chronic sinusitis and ear infections, when no other cause can be found.

Chest X-rays and computed tomography (CT) scans may help diagnose situs inversus, lung overinflation, bronchial wall thickening, and sinus malformations.

The doctor may also observe nasal polyps, a reduced sense of smell, and hearing loss. The fingers and toes are sometimes clubbed. This is believed to be caused by lack of oxygen to the extremities.

An electron microscope is used to examine tissue specimens from the nose, trachea, or adenoid. The cilia can be checked for structural abnormalities, movement, beat frequency, and coordination.

Semen analysis may reveal abnormal motility of sperm or structural abnormalities.

A breathing test may be helpful in diagnosing PCD in young patients. This test finds a reduced amount of breathed substances like saccharine or nitrous oxide passing out through the nose.

How Is Kartagener Syndrome Treated?

There is no cure for a genetic disorder. However, the complications of Kartagener syndrome can be controlled. Most patients can expect a normal lifespan.

Long-term, low-dose antibiotics and immunizations can be used to control chronic respiratory and sinus infections. Inhaled corticosteroids may ease symptoms of bronchiectasis.

Pulmonary hygiene may help clear mucus. Cardiopulmonary specialists use brochoscopy and tracheotomy to suction mucus from the airways.

Lung transplant surgery may be necessary in late-stage lung deterioration.

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